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UROLOGY, NEPHROLOGY AND ANDROLOGY (159 journals)                     

Showing 1 - 159 of 159 Journals sorted alphabetically
Acta Urológica Portuguesa     Open Access   (Followers: 1)
Actas Urológicas Españolas     Full-text available via subscription   (Followers: 3)
Actas Urológicas Españolas (English Edition)     Full-text available via subscription   (Followers: 1)
Advances in Chronic Kidney Disease     Full-text available via subscription   (Followers: 11)
Advances in Urology     Open Access   (Followers: 13)
African Journal of Nephrology     Open Access  
African Journal of Urology     Open Access   (Followers: 7)
AJP Renal Physiology     Hybrid Journal   (Followers: 8)
Aktuelle Urologie     Hybrid Journal   (Followers: 4)
American Journal of Kidney Diseases     Hybrid Journal   (Followers: 43)
American Journal of Men's Health     Open Access   (Followers: 9)
American Journal of Nephrology     Full-text available via subscription   (Followers: 38)
Andrologia     Hybrid Journal   (Followers: 2)
Andrology     Hybrid Journal   (Followers: 4)
Andrology & Gynecology : Current Research     Hybrid Journal   (Followers: 4)
Andrology and Genital Surgery     Open Access   (Followers: 7)
Andrology-Open Access     Open Access  
Annales d'Urologie     Full-text available via subscription  
Arab Journal of Nephrology and Transplantation     Open Access   (Followers: 1)
Arab Journal of Urology     Open Access   (Followers: 7)
Archives of Clinical Nephrology     Open Access   (Followers: 2)
Archivio Italiano di Urologia e Andrologia     Open Access   (Followers: 1)
Archivos Españoles de Urología     Open Access  
Asian Journal of Andrology     Open Access   (Followers: 1)
Asian Journal of Urology     Open Access   (Followers: 3)
Bangladesh Journal of Urology     Open Access   (Followers: 5)
BANTAO Journal     Open Access  
Basic and Clinical Andrology     Open Access  
BJU International     Hybrid Journal   (Followers: 34)
BJUI Compass     Open Access   (Followers: 2)
BMC Nephrology     Open Access   (Followers: 11)
BMC Urology     Open Access   (Followers: 14)
Canadian Journal of Kidney Health and Disease     Open Access   (Followers: 8)
Canadian Urological Association Journal     Open Access   (Followers: 2)
Cancer Urology     Open Access   (Followers: 2)
Cardiorenal Medicine     Full-text available via subscription   (Followers: 1)
Case Reports in Nephrology     Open Access   (Followers: 5)
Case Reports in Nephrology and Dialysis     Open Access   (Followers: 9)
Case Reports in Urology     Open Access   (Followers: 12)
Clinical and Experimental Nephrology     Hybrid Journal   (Followers: 4)
Clinical Journal of the American Society of Nephrology     Full-text available via subscription   (Followers: 22)
Clinical Kidney Journal     Open Access   (Followers: 4)
Clinical Medicine Insights : Urology     Open Access   (Followers: 3)
Clinical Nephrology     Full-text available via subscription   (Followers: 8)
Clinical Nephrology and Urology Science     Open Access   (Followers: 6)
Clinical Queries: Nephrology     Hybrid Journal   (Followers: 1)
Cuadernos de Cirugía     Open Access   (Followers: 3)
Current Opinion in Nephrology & Hypertension     Hybrid Journal   (Followers: 10)
Current Opinion in Urology     Hybrid Journal   (Followers: 12)
Current Urology     Open Access   (Followers: 10)
Current Urology Reports     Hybrid Journal   (Followers: 5)
Der Nephrologe     Hybrid Journal  
Der Urologe     Hybrid Journal   (Followers: 1)
Diabetic Nephropathy     Open Access   (Followers: 1)
EMC - Urología     Full-text available via subscription  
Enfermería Nefrológica     Open Access   (Followers: 1)
European Urology     Full-text available via subscription   (Followers: 33)
European Urology Focus     Hybrid Journal   (Followers: 5)
European Urology Oncology     Hybrid Journal   (Followers: 1)
European Urology Open Science     Open Access   (Followers: 10)
Forum Nefrologiczne     Full-text available via subscription  
Geriatric Nephrology and Urology     Hybrid Journal   (Followers: 7)
Giornale di Clinica Nefrologica e Dialisi     Open Access  
Herald Urology     Open Access   (Followers: 2)
Hong Kong Journal of Nephrology     Open Access   (Followers: 3)
Human Andrology     Partially Free   (Followers: 2)
IJU Case Reports     Open Access  
Indian Journal of Nephrology     Open Access   (Followers: 2)
Indian Journal of Urology     Open Access   (Followers: 5)
International Brazilian Journal of Urology     Open Access   (Followers: 5)
International Journal of Nephrology     Open Access   (Followers: 2)
International Journal of Nephrology and Renovascular Disease     Open Access   (Followers: 2)
International Journal of Urology     Hybrid Journal   (Followers: 12)
International Urology and Nephrology     Hybrid Journal   (Followers: 7)
Jornal Brasileiro de Nefrologia     Open Access  
Journal für Urologie und Urogynäkologie/Österreich     Hybrid Journal  
Journal of Clinical Nephrology     Open Access   (Followers: 2)
Journal of Clinical Urology     Hybrid Journal   (Followers: 14)
Journal of Endoluminal Endourology     Open Access  
Journal of Endourology     Hybrid Journal   (Followers: 2)
Journal of Endourology Case Reports     Hybrid Journal  
Journal of Genital System & Disorders     Hybrid Journal   (Followers: 3)
Journal of Integrative Nephrology and Andrology     Open Access   (Followers: 2)
Journal of Kidney Cancer and VHL     Open Access  
Journal of Lower Genital Tract Disease     Hybrid Journal  
Journal of Nephrology     Hybrid Journal   (Followers: 4)
Journal of Nephrology Research     Open Access   (Followers: 3)
Journal of Pediatric Nephrology     Open Access   (Followers: 5)
Journal of Renal Care     Hybrid Journal   (Followers: 8)
Journal of Renal Nursing     Full-text available via subscription   (Followers: 12)
Journal of Renal Nutrition     Hybrid Journal   (Followers: 28)
Journal of Renal Nutrition and Metabolism     Open Access   (Followers: 1)
Journal of the American Society of Nephrology     Full-text available via subscription   (Followers: 31)
Journal of The Egyptian Society of Nephrology and Transplantation     Open Access  
Journal of Translational Neurosciences     Open Access  
Journal of Urology     Full-text available via subscription   (Followers: 46)
Journal of Urology & Nephrology     Open Access   (Followers: 2)
Kidney Disease and Transplantation     Open Access   (Followers: 4)
Kidney Diseases     Open Access   (Followers: 3)
Kidney International     Hybrid Journal   (Followers: 47)
Kidney International Reports     Open Access   (Followers: 3)
Kidney Medicine     Open Access  
Kidney Research Journal     Open Access   (Followers: 6)
Kidneys (Počki)     Open Access   (Followers: 1)
Nature Reviews Nephrology     Full-text available via subscription   (Followers: 23)
Nature Reviews Urology     Full-text available via subscription   (Followers: 13)
Nefrología (English Edition)     Open Access  
Nefrología (Madrid)     Open Access  
Nephro-Urology Monthly     Open Access   (Followers: 1)
Nephrology     Hybrid Journal   (Followers: 13)
Nephrology Dialysis Transplantation     Hybrid Journal   (Followers: 27)
Nephron     Hybrid Journal   (Followers: 4)
Nephron Clinical Practice     Full-text available via subscription   (Followers: 4)
Nephron Experimental Nephrology     Full-text available via subscription   (Followers: 4)
Nephron Extra     Open Access   (Followers: 1)
Nephron Physiology     Full-text available via subscription   (Followers: 4)
Neurourology and Urodynamics     Hybrid Journal   (Followers: 1)
OA Nephrology     Open Access   (Followers: 2)
Open Access Journal of Urology     Open Access   (Followers: 6)
Open Journal of Nephrology     Open Access   (Followers: 5)
Open Journal of Urology     Open Access   (Followers: 6)
Open Urology & Nephrology Journal     Open Access  
Pediatric Urology Case Reports     Open Access   (Followers: 7)
Portuguese Journal of Nephrology & Hypertension     Open Access   (Followers: 1)
Progrès en Urologie     Full-text available via subscription  
Progrès en Urologie - FMC     Full-text available via subscription  
Prostate Cancer and Prostatic Diseases     Hybrid Journal   (Followers: 6)
Renal Failure     Open Access   (Followers: 12)
Renal Replacement Therapy     Open Access   (Followers: 4)
Research and Reports in Urology     Open Access   (Followers: 4)
Revista de Nefrología, Diálisis y Trasplante     Open Access   (Followers: 1)
Revista Mexicana de Urología     Open Access   (Followers: 1)
Revista Urologia Colombiana     Open Access  
Saudi Journal of Kidney Diseases and Transplantation     Open Access   (Followers: 2)
Scandinavian Journal of Urology     Hybrid Journal   (Followers: 7)
Seminars in Nephrology     Hybrid Journal   (Followers: 11)
The Prostate     Hybrid Journal   (Followers: 8)
Therapeutic Advances in Urology     Open Access   (Followers: 4)
Trends in Urology & Men's Health     Partially Free   (Followers: 1)
Ukrainian Journal of Nephrology and Dialysis     Open Access   (Followers: 1)
Uro-News     Hybrid Journal   (Followers: 1)
Urolithiasis     Hybrid Journal   (Followers: 2)
Urologia Internationalis     Full-text available via subscription   (Followers: 2)
Urologia Journal     Hybrid Journal  
Urologic Clinics of North America     Full-text available via subscription   (Followers: 4)
Urologic Nursing     Full-text available via subscription   (Followers: 4)
Urologic Radiology     Hybrid Journal  
Urological Science     Open Access  
Urologicheskie Vedomosti     Open Access  
Urologie in der Praxis     Hybrid Journal  
Urologie Scan     Hybrid Journal  
Urology     Hybrid Journal   (Followers: 33)
Urology Annals     Open Access   (Followers: 4)
Urology Case Reports     Open Access   (Followers: 3)
Urology Practice     Full-text available via subscription   (Followers: 2)
Urology Times     Free   (Followers: 3)
Urology Video Journal     Open Access   (Followers: 1)
World Journal of Nephrology and Urology     Open Access   (Followers: 15)
World Journal of Urology     Hybrid Journal   (Followers: 11)


Similar Journals
Journal Cover
Journal of the American Society of Nephrology
Journal Prestige (SJR): 4.819
Citation Impact (citeScore): 7
Number of Followers: 31  
  Full-text available via subscription Subscription journal
ISSN (Print) 1046-6673 - ISSN (Online) 1533-3450
Published by American Society of Nephrology Homepage  [2 journals]
  • This Month's Highlights
    • PubDate: 2018-08-31T13:00:29-07:00
      DOI: 10.1681/ASN.2018070711
      Issue No: Vol. 29, No. 9 (2018)
  • MUC1 Makes Me Miserable
    • Authors: Gale, D. P; Kleta, R.
      Pages: 2257 - 2258
      PubDate: 2018-08-31T13:00:29-07:00
      DOI: 10.1681/ASN.2018070742
      Issue No: Vol. 29, No. 9 (2018)
  • A New Pediatric AKI Definition: Implications of Trying to Build the
           Perfect Mousetrap
    • Authors: Goldstein S. L.
      Pages: 2259 - 2261
      PubDate: 2018-08-31T13:00:29-07:00
      DOI: 10.1681/ASN.2018070727
      Issue No: Vol. 29, No. 9 (2018)
  • What Is the Glomerular Ultrafiltration Barrier'
    • Authors: Fissell, W. H; Miner, J. H.
      Pages: 2262 - 2264
      PubDate: 2018-08-31T13:00:29-07:00
      DOI: 10.1681/ASN.2018050490
      Issue No: Vol. 29, No. 9 (2018)
  • Effects of Enzyme Replacement Therapy and Antidrug Antibodies in Patients
           with Fabry Disease
    • Authors: Lenders, M; Brand, E.
      Pages: 2265 - 2278
      PubDate: 2018-08-31T13:00:29-07:00
      DOI: 10.1681/ASN.2018030329
      Issue No: Vol. 29, No. 9 (2018)
  • Pretransplant C3d-Fixing Donor-Specific Anti-HLA Antibodies Are Not
           Associated with Increased Risk for Kidney Graft Failure
    • Authors: Kamburova, E. G; Wisse, B. W, Joosten, I, Allebes, W. A, van der Meer, A, Hilbrands, L. B, Baas, M. C, Spierings, E, Hack, C. E, van Reekum, F. E, van Zuilen, A. D, Verhaar, M. C, Bots, M. L, Drop, A. C. A. D, Plaisier, L, Seelen, M. A. J, Sanders, J. S, Hepkema, B. G, Lambeck, A. J. A, Bungener, L. B, Roozendaal, C, Tilanus, M. G. J, Voorter, C. E, Wieten, L, van Duijnhoven, E. M, Gelens, M. A. C. J, Christiaans, M. H. L, van Ittersum, F. J, Nurmohamed, S. A, Lardy, N. M, Swelsen, W, van der Pant, K. A. M. I, van der Weerd, N. C, ten Berge, I. J. M, Bemelman, F. J, Hoitsma, A. J, van der Boog, P. J. M, de Fijter, J. W, Betjes, M. G. H, Heidt, S, Roelen, D. L, Claas, F. H, Otten, H. G.
      Pages: 2279 - 2285
      Abstract: Background Complement-fixing antibodies against donor HLA are considered a contraindication for kidney transplant. A modification of the IgG single-antigen bead (SAB) assay allows detection of anti-HLA antibodies that bind C3d. Because early humoral graft rejection is considered to be complement mediated, this SAB-based technique may provide a valuable tool in the pretransplant risk stratification of kidney transplant recipients.Methods Previously, we established that pretransplant donor-specific anti-HLA antibodies (DSAs) are associated with increased risk for long-term graft failure in complement-dependent cytotoxicity crossmatch-negative transplants. In this study, we further characterized the DSA-positive serum samples using the C3d SAB assay.Results Among 567 pretransplant DSA-positive serum samples, 97 (17%) contained at least one C3d-fixing DSA, whereas 470 (83%) had non–C3d-fixing DSA. At 10 years after transplant, patients with C3d-fixing antibodies had a death-censored, covariate-adjusted graft survival of 60%, whereas patients with non–C3d-fixing DSA had a graft survival of 64% (hazard ratio, 1.02; 95% confidence interval, 0.70 to 1.48 for C3d-fixing DSA compared with non–C3d-fixing DSA; P=0.93). Patients without DSA had a 10-year graft survival of 78%.Conclusions The C3d-fixing ability of pretransplant DSA is not associated with increased risk for graft failure.
      PubDate: 2018-08-31T13:00:29-07:00
      DOI: 10.1681/ASN.2018020205
      Issue No: Vol. 29, No. 9 (2018)
  • Efficient Gene Transfer to Kidney Mesenchymal Cells Using a Synthetic
           Adeno-Associated Viral Vector
    • Authors: Ikeda, Y; Sun, Z, Ru, X, Vandenberghe, L. H, Humphreys, B. D.
      Pages: 2287 - 2297
      Abstract: BackgroundAfter injury, mesenchymal progenitors in the kidney interstitium differentiate into myofibroblasts, cells that have a critical role in kidney fibrogenesis. The ability to deliver genetic material to myofibroblast progenitors could allow new therapeutic approaches to treat kidney fibrosis. Preclinical and clinical studies show that adeno-associated viruses (AAVs) efficiently and safely transduce various tissue targets in vivo; however, protocols for transduction of kidney mesenchymal cells have not been established.MethodsWe evaluated the transduction profiles of various pseudotyped AAV vectors expressing either GFP or Cre recombinase reporters in mouse kidney and human kidney organoids.ResultsOf the six AAVs tested, a synthetic AAV called Anc80 showed specific and high-efficiency transduction of kidney stroma and mesangial cells. We characterized the cell specificity, dose dependence, and expression kinetics and showed the efficacy of this approach by knocking out Gli2 from kidney mesenchymal cells by injection of Anc80-Cre virus into either homozygous or heterozygous Gli2-floxed mice. After unilateral ureteral obstruction, the homozygous Gli2-floxed mice had less fibrosis than the Gli2 heterozygotes had. We observed the same antifibrotic effect in β-catenin–floxed mice injected with Anc80-Cre virus before obstructive injury, strongly supporting a central role for canonical Wnt signaling in kidney myofibroblast activation. Finally, we showed that the Anc80 synthetic virus can transduce the mesenchymal lineage in human kidney organoids.ConclusionsThese studies establish a novel method for inducible knockout of floxed genes in mouse mesangium, pericytes, and perivascular fibroblasts and are the foundation for future gene therapy approaches to treat kidney fibrosis.
      PubDate: 2018-08-31T13:00:29-07:00
      DOI: 10.1681/ASN.2018040426
      Issue No: Vol. 29, No. 9 (2018)
  • Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial
           Kidney Disease: Implications for Nongenetic Disease Recognition
    • Authors: Knaup, K. X; Hackenbeck, T, Popp, B, Stoeckert, J, Wenzel, A, Büttner-Herold, M, Pfister, F, Schueler, M, Seven, D, May, A. M, Halbritter, J, Gröne, H.-J, Reis, A, Beck, B. B, Amann, K, Ekici, A. B, Wiesener, M. S.
      Pages: 2298 - 2309
      Abstract: BackgroundProviding the correct diagnosis for patients with tubulointerstitial kidney disease and secondary degenerative disorders, such as hypertension, remains a challenge. The autosomal dominant tubulointerstitial kidney disease (ADTKD) subtype caused by MUC1 mutations (ADTKD-MUC1) is particularly difficult to diagnose, because the mutational hotspot is a complex repeat domain, inaccessible with routine sequencing techniques. Here, we further evaluated SNaPshot minisequencing as a technique for diagnosing ADTKD-MUC1 and assessed immunodetection of the disease-associated mucin 1 frameshift protein (MUC1-fs) as a nongenetic technique.MethodsWe re-evaluated detection of MUC1 mutations by targeted repeat enrichment and SNaPshot minisequencing by haplotype reconstruction via microsatellite analysis in three independent ADTKD-MUC1 families. Additionally, we generated rabbit polyclonal antibodies against MUC1-fs and evaluated immunodetection of wild-type and mutated allele products in human kidney biopsy specimens.ResultsThe detection of MUC1 mutations by SNaPshot minisequencing was robust. Immunostaining with our MUC1-fs antibodies and an MUC1 antibody showed that both proteins are readily detectable in human ADTKD-MUC1 kidneys, with mucin 1 localized to the apical membrane and MUC1-fs abundantly distributed throughout the cytoplasm. Notably, immunohistochemical analysis of MUC1-fs expression in clinical kidney samples facilitated reliable prediction of the disease status of individual patients.ConclusionsDiagnosing ADTKD-MUC1 by molecular genetics is possible, but it is technically demanding and labor intensive. However, immunohistochemistry on kidney biopsy specimens is feasible for nongenetic diagnosis of ADTKD-MUC1 and therefore, a valid method to select families for further diagnostics. Our data are compatible with the hypothesis that specific molecular effects of MUC1-fs underlie the pathogenesis of this disease.
      PubDate: 2018-08-31T13:00:29-07:00
      DOI: 10.1681/ASN.2018030245
      Issue No: Vol. 29, No. 9 (2018)
  • Interactions between Macrophages and Cyst-Lining Epithelial Cells Promote
           Kidney Cyst Growth in Pkd1-Deficient Mice
    • Authors: Yang, Y; Chen, M, Zhou, J, Lv, J, Song, S, Fu, L, Chen, J, Yang, M, Mei, C.
      Pages: 2310 - 2325
      Abstract: BackgroundAutosomal-dominant polycystic kidney disease (ADPKD) is the leading inherited renal disease worldwide. The proproliferative function of macrophages is associated with late-stage cyst enlargement in mice with PKD; however, the way in which macrophages act on cyst-lining epithelial cells (CLECs) has not been well elucidated.MethodsWe generated a rapid-onset PKD mouse model by inactivating Pkd1 on postnatal day 10 (P10) and compared cell proliferation and differential gene expression in kidney tissues of the PKD mice and wild-type (WT) littermates.ResultsThe cystic phenotype was dominant from P18. A distinct peak in cell proliferation in polycystic kidneys during P22–P30 was closely related to late-stage cyst growth. Comparisons of gene expression profiles in kidney tissues at P22 and P30 in PKD and WT mice revealed that arginine metabolism was significantly activated; 204 differentially expressed genes (DEGs), including Arg1, an arginine metabolism–associated gene, were identified in late-stage polycystic kidneys. The Arg1-encoded protein, arginase-1 (ARG1), was predominantly expressed in macrophages in a time-dependent manner. Multiple-stage macrophage depletion verified that macrophages expressing high ARG1 levels accounted for late-stage cyst enlargement, and inhibiting ARG1 activity significantly retarded cyst growth and effectively lowered the proliferative indices in polycystic kidneys. In vitro experiments revealed that macrophages stimulated CLEC proliferation, and that L–lactic acid, primarily generated by CLECs, significantly upregulated ARG1 expression and increased polyamine synthesis in macrophages.ConclusionsInteractions between macrophages and CLECs promote cyst growth. ARG1 is a key molecule involved in this process and is a potential therapeutic target to help delay ADPKD progression.
      PubDate: 2018-08-31T13:00:29-07:00
      DOI: 10.1681/ASN.2018010074
      Issue No: Vol. 29, No. 9 (2018)
  • Phosphorylation of Acetyl-CoA Carboxylase by AMPK Reduces Renal Fibrosis
           and Is Essential for the Anti-Fibrotic Effect of Metformin
    • Authors: Lee, M; Katerelos, M, Gleich, K, Galic, S, Kemp, B. E, Mount, P. F, Power, D. A.
      Pages: 2326 - 2336
      Abstract: BackgroundExpression of genes regulating fatty acid metabolism is reduced in tubular epithelial cells from kidneys with tubulointerstitial fibrosis (TIF), thus decreasing the energy produced by fatty acid oxidation (FAO). Acetyl-CoA carboxylase (ACC), a target for the energy-sensing AMP-activating protein kinase (AMPK), is the major controller of the rate of FAO within cells. Metformin has a well described antifibrotic effect, and increases phosphorylation of ACC by AMPK, thereby increasing FAO.MethodsWe evaluated phosphorylation of ACC in cell and mouse nephropathy models, as well as the effects of metformin administration in mice with and without mutations that reduce ACC phosphorylation.ResultsReduced phosphorylation of ACC on the AMPK site Ser79 occurred in both tubular epithelial cells treated with folate to mimic cellular injury and in wild-type (WT) mice after induction of the folic acid nephropathy model. When this effect was exaggerated in mice with knock-in (KI) Ser to Ala mutations of the phosphorylation sites in ACC, lipid accumulation and fibrosis increased significantly compared with WT. The effect of ACC phosphorylation on fibrosis was confirmed in the unilateral ureteric obstruction model, which showed significantly increased lipid accumulation and fibrosis in the KI mice. Metformin use was associated with significantly reduced fibrosis and lipid accumulation in WT mice. In contrast, in the KI mice, the drug was associated with worsened fibrosis.ConclusionsThese data indicate that reduced phosphorylation of ACC after renal injury contributes to the development of TIF, and that phosphorylation of ACC is required for metformin’s antifibrotic action in the kidney.
      PubDate: 2018-08-31T13:00:29-07:00
      DOI: 10.1681/ASN.2018010050
      Issue No: Vol. 29, No. 9 (2018)
  • ABCC6 Deficiency Promotes Development of Randall Plaque
    • Authors: Letavernier, E; Kauffenstein, G, Huguet, L, Navasiolava, N, Bouderlique, E, Tang, E, Delaitre, L, Bazin, D, de Frutos, M, Gay, C, Perez, J, Verpont, M.-C, Haymann, J.-P, Pomozi, V, Zoll, J, Le Saux, O, Daudon, M, Leftheriotis, G, Martin, L.
      Pages: 2337 - 2347
      Abstract: BackgroundPseudoxanthoma elasticum (PXE) is a genetic disease caused by mutations in the ABCC6 gene that result in low pyrophosphate levels and subsequent progressive soft tissue calcifications. PXE mainly affects the skin, retina, and arteries. However, many patients with PXE experience kidney stones. We determined the prevalence of this pathology in patients with PXE and examined the possible underlying mechanisms in murine models.MethodsWe conducted a retrospective study in a large cohort of patients with PXE and analyzed urine samples and kidneys from Abcc6–/– mice at various ages. We used Yasue staining, scanning electron microscopy, electron microscopy coupled to electron energy loss spectroscopy, and Fourier transform infrared microspectroscopy to characterize kidney calcifications.ResultsAmong 113 patients with PXE, 45 (40%) had a past medical history of kidney stones. Five of six computed tomography scans performed showed evidence of massive papillary calcifications (Randall plaques). Abcc6–/– mice spontaneously developed kidney interstitial apatite calcifications with aging. These calcifications appeared specifically at the tip of the papilla and formed Randall plaques similar to those observed in human kidneys. Compared with controls, Abcc6–/– mice had low urinary excretion of pyrophosphate.ConclusionsThe frequency of kidney stones and probably, Randall plaque is extremely high in patients with PXE, and Abcc6–/– mice provide a new and useful model in which to study Randall plaque formation. Our findings also suggest that pyrophosphate administration should be evaluated for the prevention of Randall plaque and kidney stones.
      PubDate: 2018-08-31T13:00:29-07:00
      DOI: 10.1681/ASN.2017101148
      Issue No: Vol. 29, No. 9 (2018)
  • Whole-Exome Sequencing Identifies Causative Mutations in Families with
           Congenital Anomalies of the Kidney and Urinary Tract
    • Authors: van der Ven, A. T; Connaughton, D. M, Ityel, H, Mann, N, Nakayama, M, Chen, J, Vivante, A, Hwang, D.-y, Schulz, J, Braun, D. A, Schmidt, J. M, Schapiro, D, Schneider, R, Warejko, J. K, Daga, A, Majmundar, A. J, Tan, W, Jobst-Schwan, T, Hermle, T, Widmeier, E, Ashraf, S, Amar, A, Hoogstraaten, C. A, Hugo, H, Kitzler, T. M, Kause, F, Kolvenbach, C. M, Dai, R, Spaneas, L, Amann, K, Stein, D. R, Baum, M. A, Somers, M. J. G, Rodig, N. M, Ferguson, M. A, Traum, A. Z, Daouk, G. H, Bogdanovic, R, Stajic, N, Soliman, N. A, Kari, J. A, El Desoky, S, Fathy, H. M, Milosevic, D, Al-Saffar, M, Awad, H. S, Eid, L. A, Selvin, A, Senguttuvan, P, Sanna-Cherchi, S, Rehm, H. L, MacArthur, D. G, Lek, M, Laricchia, K. M, Wilson, M. W, Mane, S. M, Lifton, R. P, Lee, R. S, Bauer, S. B, Lu, W, Reutter, H. M, Tasic, V, Shril, S, Hildebrandt, F.
      Pages: 2348 - 2361
      Abstract: BackgroundCongenital anomalies of the kidney and urinary tract (CAKUT) are the most prevalent cause of kidney disease in the first three decades of life. Previous gene panel studies showed monogenic causation in up to 12% of patients with CAKUT.MethodsWe applied whole-exome sequencing to analyze the genotypes of individuals from 232 families with CAKUT, evaluating for mutations in single genes known to cause human CAKUT and genes known to cause CAKUT in mice. In consanguineous or multiplex families, we additionally performed a search for novel monogenic causes of CAKUT.ResultsIn 29 families (13%), we detected a causative mutation in a known gene for isolated or syndromic CAKUT that sufficiently explained the patient’s CAKUT phenotype. In three families (1%), we detected a mutation in a gene reported to cause a phenocopy of CAKUT. In 15 of 155 families with isolated CAKUT, we detected deleterious mutations in syndromic CAKUT genes. Our additional search for novel monogenic causes of CAKUT in consanguineous and multiplex families revealed a potential single, novel monogenic CAKUT gene in 19 of 232 families (8%).ConclusionsWe identified monogenic mutations in a known human CAKUT gene or CAKUT phenocopy gene as the cause of disease in 14% of the CAKUT families in this study. Whole-exome sequencing provides an etiologic diagnosis in a high fraction of patients with CAKUT and will provide a new basis for the mechanistic understanding of CAKUT.
      PubDate: 2018-08-31T13:00:29-07:00
      DOI: 10.1681/ASN.2017121265
      Issue No: Vol. 29, No. 9 (2018)
  • Structural Basis of Highly Specific Interaction between Nephrin and MAGI1
           in Slit Diaphragm Assembly and Signaling
    • Authors: Weng, Z; Shang, Y, Ji, Z, Ye, F, Lin, L, Zhang, R, Zhu, J.
      Pages: 2362 - 2371
      Abstract: BackgroundThe slit diaphragm is a specialized adhesion junction between opposing podocytes, establishing the final filtration barrier that prevents passage of proteins from the capillary lumen into the urinary space. Nephrin, the key structural and signaling adhesion molecule expressed in the slit diaphragm, contains an evolutionally conserved, atypical PDZ-binding motif (PBM) reported to bind to a variety of proteins in the slit diaphragm. Several mutations in NPHS1 (the gene encoding nephrin) that result in nephrin lacking an intact PBM are associated with glomerular diseases. However, the molecular basis of nephrin-PBM–mediated protein complexes is still unclear.MethodsUsing a combination of biochemic, biophysic, and cell biologic approaches, we systematically investigated the interactions between nephrin-PBM and PDZ domain–containing proteins in the slit diaphragm.ResultsWe found that nephrin-PBM specifically binds to one member of the membrane-associated guanylate kinase family of scaffolding proteins, MAGI1, but not to another, MAGI2. The complex structure of MAGI1-PDZ3/nephrin-PBM reveals that the Gly at the –3 position of nephrin-PBM is the determining feature for MAGI1-PDZ3 recognition, which sharply contrasts with the typical PDZ/PBM binding mode. A single gain-of-function mutation within MAGI2 enabled nephrin-PBM binding. In addition, using our structural analysis, we developed a highly efficient inhibitory peptide capable of specifically blocking the nephrin/MAGI1 interaction.ConclusionsMAGI1 interacts with nephrin-PBM with exquisite specificity. A newly developed, potent inhibitory peptide that blocks this interaction may be useful for future functional investigations in vivo. Our findings also provide possible explanations for the diseases caused by NPHS1 mutations.
      PubDate: 2018-08-31T13:00:29-07:00
      DOI: 10.1681/ASN.2017121275
      Issue No: Vol. 29, No. 9 (2018)
  • EGF Receptor-Dependent YAP Activation Is Important for Renal Recovery from
    • Authors: Chen, J; You, H, Li, Y, Xu, Y, He, Q, Harris, R. C.
      Pages: 2372 - 2385
      Abstract: BackgroundIncreasing evidence indicates that renal recovery from AKI stems from dedifferentiation and proliferation of surviving tubule epithelial cells. Both EGF receptor (EGFR) and the Hippo signaling pathway are implicated in cell proliferation and differentiation, and previous studies showed that activation of EGFR in renal proximal tubule epithelial cells (RPTCs) plays a critical role in recovery from ischemia-reperfusion injury (IRI). In this study, we explored RPTC activation of Yes-associated protein (YAP) and transcriptional coactivator with PDZ binding motif (TAZ), two key downstream effectors of the Hippo pathway, and their potential involvement in recovery from AKI.MethodsWe used immunofluorescence to examine YAP expression in kidney biopsy samples from patients with clinical AKI and controls (patients with minimal change disease). Studies of RPTC activation of YAP and TAZ used cultured human RPTCs that were exposed to hypoxia-reoxygenation as well as knockout mice (with inducible deletions of Yap, Taz, or both occurring specifically in RPTCs) that were subjected to bilateral IRI.ResultsYAP was activated in RPTCs in kidneys from post-AKI patients and post-IRI mouse kidneys. Inhibition of the interaction of YAP and the TEA domain (TEAD) transcription factor complex by verteporfin or conditional deletion of YAP in RPTCs delayed renal functional and structural recovery from IRI, whereas TAZ deletion had no effect. Activation of the EGFR-PI3K-Akt pathway in response to IRI signaled YAP activation, which promoted cell cycle progression.ConclusionsThis study shows that EGFR-PI3K-Akt–dependent YAP activation plays an essential role in mediating epithelial cell regeneration during kidney recovery from AKI.
      PubDate: 2018-08-31T13:00:29-07:00
      DOI: 10.1681/ASN.2017121272
      Issue No: Vol. 29, No. 9 (2018)
  • Race, Ethnicity, and End-of-Life Care in Dialysis Patients in the United
    • Authors: Foley, R. N; Sexton, D. J, Drawz, P, Ishani, A, Reule, S.
      Pages: 2387 - 2399
      Abstract: BackgroundEnd-of-life care is a prominent consideration in patients on maintenance dialysis, especially when death appears imminent and quality of life is poor. To date, examination of race- and ethnicity-associated disparities in end-of-life care for patients with ESRD has largely been restricted to comparisons of white and black patients.MethodsWe performed a retrospective national study using United States Renal Data System files to determine whether end-of-life care in United States patients on dialysis is subject to racial or ethnic disparity. The primary outcome was a composite of discontinuation of dialysis and death in a nonhospital or hospice setting.ResultsAmong 1,098,384 patients on dialysis dying between 2000 and 2014, the primary outcome was less likely in patients from any minority group compared with the non-Hispanic white population (10.9% versus 22.6%, P
      PubDate: 2018-08-31T13:00:29-07:00
      DOI: 10.1681/ASN.2017121297
      Issue No: Vol. 29, No. 9 (2018)
  • Acute Declines in Renal Function during Intensive BP Lowering and
           Long-Term Risk of Death
    • Authors: Ku, E; Ix, J. H, Jamerson, K, Tangri, N, Lin, F, Gassman, J, Smogorzewski, M, Sarnak, M. J.
      Pages: 2401 - 2408
      Abstract: BackgroundDuring intensive BP lowering, acute declines in renal function are common, thought to be hemodynamic, and potentially reversible. We previously showed that acute declines in renal function ≥20% during intensive BP lowering were associated with higher risk of ESRD. Here, we determined whether acute declines in renal function during intensive BP lowering were associated with mortality risk among 1660 participants of the African American Study of Kidney Disease and Hypertension and the Modification of Diet in Renal Disease Trial.MethodsWe used Cox models to examine the association between percentage decline in eGFR (
      PubDate: 2018-08-31T13:00:29-07:00
      DOI: 10.1681/ASN.2018040365
      Issue No: Vol. 29, No. 9 (2018)
  • Association of Ambulatory Blood Pressure with All-Cause and Cardiovascular
           Mortality in Hemodialysis Patients: Effects of Heart Failure and Atrial
    • Authors: Mayer, C. C; Matschkal, J, Sarafidis, P. A, Hagmair, S, Lorenz, G, Angermann, S, Braunisch, M. C, Baumann, M, Heemann, U, Wassertheurer, S, Schmaderer, C.
      Pages: 2409 - 2417
      Abstract: BackgroundEvidence on the utility of ambulatory BP monitoring for risk prediction has been scarce and inconclusive in patients on hemodialysis. In addition, in cardiac diseases such as heart failure and atrial fibrillation (common among patients on hemodialysis), studies have found that parameters such as systolic BP (SBP) and pulse pressure (PP) have inverse or nonlinear (U-shaped) associations with mortality.MethodsIn total, 344 patients on hemodialysis (105 with atrial fibrillation, heart failure, or both) underwent ambulatory BP monitoring for 24 hours, starting before a dialysis session. The primary end point was all-cause mortality; the prespecified secondary end point was cardiovascular mortality. We performed linear and nonlinear Cox regression analyses for risk prediction to determine the associations between BP and study end points.ResultsDuring the mean 37.6-month follow-up, 115 patients died (47 from a cardiovascular cause). SBP and PP showed a U-shaped association with all-cause and cardiovascular mortality in the cohort. In linear subgroup analysis, SBP and PP were independent risk predictors and showed a significant inverse relationship to all-cause and cardiovascular mortality in patients with atrial fibrillation or heart failure. In patients without these conditions, these associations were in the opposite direction. SBP and PP were significant independent risk predictors for cardiovascular mortality; PP was a significant independent risk predictor for all-cause mortality.ConclusionsThis study provides evidence for the U-shaped association between peripheral ambulatory SBP or PP and mortality in patients on hemodialysis. Furthermore, it suggests that underlying cardiac disease can explain the opposite direction of associations.
      PubDate: 2018-08-31T13:00:29-07:00
      DOI: 10.1681/ASN.2018010086
      Issue No: Vol. 29, No. 9 (2018)
  • Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing
           Autosomal Dominant Tubulointerstitial Kidney Disease
    • Authors: Zivna, M; Kidd, K, Pristoupilova, A, Baresova, V, DeFelice, M, Blumenstiel, B, Harden, M, Conlon, P, Lavin, P, Connaughton, D. M, Hartmannova, H, Hodanova, K, Stranecky, V, Vrbacka, A, Vyletal, P, Zivny, J, Votruba, M, Sovova, J, Hulkova, H, Robins, V, Perry, R, Wenzel, A, Beck, B. B, Seeman, T, Viklicky, O, Rajnochova-Bloudickova, S, Papagregoriou, G, Deltas, C. C, Alper, S. L, Greka, A, Bleyer, A. J, Kmoch, S.
      Pages: 2418 - 2431
      Abstract: BackgroundAutosomal dominant tubulointerstitial kidney disease caused by mucin-1 gene (MUC1) mutations (ADTKD-MUC1) is characterized by progressive kidney failure. Genetic evaluation for ADTKD-MUC1 specifically tests for a cytosine duplication that creates a unique frameshift protein (MUC1fs). Our goal was to develop immunohistochemical methods to detect the MUC1fs created by the cytosine duplication and, possibly, by other similar frameshift mutations and to identify novel MUC1 mutations in individuals with positive immunohistochemical staining for the MUC1fs protein.MethodsWe performed MUC1fs immunostaining on urinary cell smears and various tissues from ADTKD-MUC1–positive and –negative controls as well as in individuals from 37 ADTKD families that were negative for mutations in known ADTKD genes. We used novel analytic methods to identify MUC1 frameshift mutations.ResultsAfter technique refinement, the sensitivity and specificity for MUC1fs immunostaining of urinary cell smears were 94.2% and 88.6%, respectively. Further genetic testing on 17 families with positive MUC1fs immunostaining revealed six families with five novel MUC1 frameshift mutations that all predict production of the identical MUC1fs protein.ConclusionsWe developed a noninvasive immunohistochemical method to detect MUC1fs that, after further validation, may be useful in the future for diagnostic testing. Production of the MUC1fs protein may be central to the pathogenesis of ADTKD-MUC1.
      PubDate: 2018-08-31T13:00:29-07:00
      DOI: 10.1681/ASN.2018020180
      Issue No: Vol. 29, No. 9 (2018)
  • A New Criterion for Pediatric AKI Based on the Reference Change Value of
           Serum Creatinine
    • Authors: Xu, X; Nie, S, Zhang, A, Jianhua, M, Liu, H.-P, Xia, H, Xu, H, Liu, Z, Feng, S, Zhou, W, Liu, X, Yang, Y, Tao, Y, Feng, Y, Chen, C, Wang, M, Zha, Y, Feng, J.-H, Li, Q, Ge, S, Chen, J, He, Y, Teng, S, Hao, C, Liu, B.-C, Tang, Y, Wang, L.-J, Qi, J.-L, He, W, He, P, Liu, Y, Hou, F. F.
      Pages: 2432 - 2442
      Abstract: BackgroundCurrent definitions of AKI do not take into account serum creatinine’s high variability in children.MethodsWe analyzed data from 156,075 hospitalized children with at least two creatinine tests within 30 days. We estimated reference change value (RCV) of creatinine on the basis of age and initial creatinine level in children without kidney disease or known AKI risk, and we used these data to develop a model for detecting pediatric AKI on the basis of RCV of creatinine. We defined pediatric AKI according to pediatric reference change value optimized for AKI in children (pROCK) as creatinine increase beyond RCV of creatinine, which was estimated as the greater of 20 μmol/L or 30% of the initial creatinine level.ResultsOf 102,817 children with at least two serum creatinine tests within 7 days, 5432 (5.3%) had AKI as defined by pROCK compared with 15,647 (15.2%) and 10,446 (10.2%) as defined by pediatric RIFLE (pRIFLE) and Kidney Disease Improving Global Outcomes (KDIGO), respectively. Children with pROCK-defined AKI had significantly increased risk of death (hazard ratio, 3.56; 95% confidence interval, 3.15 to 4.04) compared with those without AKI. About 66% of patients with pRIFLE-defined AKI and 51% of patients with KDIGO-defined AKI, mostly children with initial creatinine level of
      PubDate: 2018-08-31T13:00:29-07:00
      DOI: 10.1681/ASN.2018010090
      Issue No: Vol. 29, No. 9 (2018)
  • Novel Approaches for Assessment of Bone Turnover in CKD: Is New Always
    • Authors: Gosmanova, E. O; Gosmanov, A. R.
      Pages: 2443 - 2443
      PubDate: 2018-08-31T13:00:29-07:00
      DOI: 10.1681/ASN.2018050561
      Issue No: Vol. 29, No. 9 (2018)
  • Authors' Reply
    • Authors: Salam, S; Khwaja, A, Eastell, R.
      Pages: 2444 - 2444
      PubDate: 2018-08-31T13:00:29-07:00
      DOI: 10.1681/ASN.2018060647
      Issue No: Vol. 29, No. 9 (2018)
  • Erratum
    • Pages: 2445 - 2445
      PubDate: 2018-08-31T13:00:29-07:00
      DOI: 10.1681/ASN.2018060653
      Issue No: Vol. 29, No. 9 (2018)
School of Mathematical and Computer Sciences
Heriot-Watt University
Edinburgh, EH14 4AS, UK
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