Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria. [PDF]
Journal of the American Society of Nephrology, 1998 Mutations in the CLCN5 gene have been demonstrated in three disorders of hypercalciuric nephrolithiasis, i.e., Dent's disease, X-linked recessive nephrolithiasis, and X-linked recessive hypophosphatemic rickets. Recently, a number of Japanese children with low molecular weight proteinuria (LMWP) showing symptoms similar to those shown by patients with ...
T, Morimoto +9 more
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Detailed investigations of proximal tubular function in Imerslund-Grasbeck syndrome [PDF]
, 2013 BACKGROUND: Imerslund-Gräsbeck Syndrome (IGS) is a rare genetic disorder characterised by juvenile megaloblastic anaemia. IGS is caused by mutations in either of the genes encoding the intestinal intrinsic factor-vitamin B(12) receptor complex, cubam ...
Amsellem, Sabine +15 more
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Tubulointerstitial injury and proximal tubule albumin transport in early diabetic nephropathy induced by type 1 diabetes mellitus [PDF]
, 2017 A decrease in the tubular expression of albumin endocytic transporters megalin and cubilin has been associated with diabetic nephropathy (DN), but there are no comprehensive studies to date relating early tubulointerstitial injury and the effect of the ...
Bahamonde, Javiera +3 more
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Effect of sampling method and storage conditions on albumin, retinol-binding protein, and N-acetyl-β-D-glucosaminidase concentrations in canine urine samples [PDF]
, 2010 Urinary markers for renal dysfunction are gaining interest but effects of sampling method, storage conditions, and urinary tract inflammation or infection on these markers are unclear Therefore, the objectives of the current study were to determine the ...
Daminet, Sylvie +4 more
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Clinical and CLCN5 genetic mutation analysis of Dent’s disease in children
Linchuang shenzangbing zazhi, 2017 Objective Dent disease is a rare X-linked recessive renal tubular disease.This study aimed to enhance the recognition of dent disease by exploring the clinical characteristics and genetic features.Methods Methods The clinical data of 3 children with Dent
CHEN Guo-qiang +3 more
doaj
Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene
BMC Nephrology, 2022 Background Dent disease is an X-linked disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and chronic kidney disease (CKD).
Eleni Drosataki +9 more
doaj +1 more source
Involvement of heparanase in the pathogenesis of acute kidney injury: Nephroprotective effect of PG545 [PDF]
, 2017 Despite the high prevalence of acute kidney injury (AKI) and its association with increased morbidity and mortality, therapeutic approaches for AKI are disappointing. This is largely attributed to poor understanding of the pathogenesis of AKI. Heparanase,
Abassi, Zaid +16 more
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Hyperfunctional complement C3 promotes C5-dependent atypical hemolytic uremic syndrome in mice [PDF]
, 2019 Atypical hemolytic uremic syndrome (aHUS) is frequently associated in humans with loss-of-function mutations in complement-regulating proteins or gain-of-function mutations in complement-activating proteins.
Atkinson, John P +11 more
core +3 more sources
Archives of Medical Science, 2021 Introduction The role of low-dose aspirin combined with low-molecular-weight heparin (LMWH) in the treatment of preeclampsia (PE) remains unclear. We aimed to assess the efficacy and safety of low-dose aspirin combined with LMWH in PE treatment, to ...
Chunfeng Wu +3 more
doaj +1 more source
Prevalence of and Risk Factors for Paroxysmal Atrial Fibrillation in Patients with Cardiovascular Disease but without diagnosed Atrial Fibrillation [PDF]
, 2019 学位記番号 ...
Niijima, Katsura +2 more
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