[HTML][HTML] C3 glomerulopathy and current dilemmas

N Ito, R Ohashi, M Nagata - Clinical and experimental nephrology, 2017 - Springer
Abstract C3 glomerulopathy (C3G) is a recently identified disease entity caused by
dysregulation of the alternative complement pathway, and dense deposit disease (DDD) …

Progress in Uremic Toxin Research: Genetics/Genomics in Chronic Kidney Disease—Towards Personalized Medicine?

K Luttropp, B Lindholm, JJ Carrero… - Seminars in …, 2009 - Wiley Online Library
The progression rate of chronic kidney disease (CKD) to its terminal stage, end‐stage renal
disease (ESRD), and the development and severity of various complications, are at least …

[引用][C] Molecular genetics of hereditary nephritis

ST Reeders - Kidney international, 1992 - Elsevier
Patient 1. A 19-year-old male was referred for evaluation of a glomerulopathy. Frequency of
micturition had been noted when he was 2.5 years old, and urinalysis at that time revealed …

Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.

HH Lemmink, WN Nillesen, T Mochizuki… - The Journal of …, 1996 - Am Soc Clin Investig
Benign familial hematuria (BFH) is characterized by autosomal dominant inheritance,
thinning of the glomerular basement membrane (GBM) and normal renal function. It is …

Diagnosis of monogenic chronic kidney diseases

ME Armstrong, CP Thomas - Current opinion in nephrology and …, 2019 - journals.lww.com
We provide an overview of the principal phenotypes seen in chronic kidney disease with a
focus on the cystic diseases and ciliopathies, the glomerular diseases, disorders of renal …

Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4).

JA Jefferson, HH Lemmink, AE Hughes… - … official publication of …, 1997 - academic.oup.com
BACKGROUND: Alport syndrome is a hereditary nephritis that may lead to end-stage renal
disease (ESRD) in young adult life and is often associated with sensorineural deafness …

Inherited diseases of the glomerular basement membrane

MC Gubler - Nature clinical practice Nephrology, 2008 - nature.com
The glomerular basement membrane (GBM) is a specialized form of basement membrane
that has a major role in the maintenance of the glomerular filtration barrier. Like all basement …

Learning physiology from inherited kidney disorders

J van der Wijst, H Belge, RJM Bindels… - Physiological …, 2019 - journals.physiology.org
The identification of genes causing inherited kidney diseases yielded crucial insights in the
molecular basis of disease and improved our understanding of physiological processes that …

The importance of family history on the development of renal disease

SG Satko, BI Freedman - Current opinion in nephrology and …, 2004 - journals.lww.com
Family members of individuals with chronic kidney disease are disproportionately affected
with unrecognized and asymptomatic nephropathy. Screening of these high-risk relatives for …

[HTML][HTML] Familial forms of nephrotic syndrome

G Caridi, A Trivelli, S Sanna-Cherchi, F Perfumo… - Pediatric …, 2010 - Springer
The recent discovery of genes involved in familial forms of nephrotic syndrome represents a
break-through in nephrology. To date, 15 genes have been characterized and several new …