5 research outputs found
Age at end-stage renal failure and severity of mutations with <i>COL4A5</i>, <i>COL4A3</i> and <i>COL4A4</i> variants.
<p>Age at end-stage renal failure and severity of mutations with <i>COL4A5</i>, <i>COL4A3</i> and <i>COL4A4</i> variants.</p
Common Founder mutations in the <i>COL4A5</i>, <i>COL4A3</i> and <i>COL4A4</i> genes.
<p>Common Founder mutations in the <i>COL4A5</i>, <i>COL4A3</i> and <i>COL4A4</i> genes.</p
Distribution of missense variants in the <i>COL4A5</i> gene in each exon corrected for exon size and demonstrating a non-uniform distribution.
<p>Distribution of missense variants in the <i>COL4A5</i> gene in each exon corrected for exon size and demonstrating a non-uniform distribution.</p
Observed versus expected likelihood of Glycine substitutions in the <i>COL4A5</i>, <i>COL4A3</i> and <i>COL4A4</i> genes in Alport syndrome and Thin basement membrane nephropathy.
<p>Observed number from the LOVD databases; expected number derived from data for collagen I [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0161802#pone.0161802.ref020" target="_blank">20</a>].</p
Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort
Individuals with rare kidney diseases account for 5-10% of people with chronic kidney disease, but constitute more than 25% of patients receiving kidney replacement therapy. The National Registry of Rare Kidney Diseases (RaDaR) gathers longitudinal data from patients with these conditions, which we used to study disease progression and outcomes of death and kidney failure.People aged 0-96 years living with 28 types of rare kidney diseases were recruited from 108 UK renal care facilities. The primary outcomes were cumulative incidence of mortality and kidney failure in individuals with rare kidney diseases, which were calculated and compared with that of unselected patients with chronic kidney disease. Cumulative incidence and Kaplan-Meier survival estimates were calculated for the following outcomes: median age at kidney failure; median age at death; time from start of dialysis to death; and time from diagnosis to estimated glomerular filtration rate (eGFR) thresholds, allowing calculation of time from last eGFR of 75 mL/min per 1·73 m2 or more to first eGFR of less than 30 mL/min per 1·73 m2 (the therapeutic trial window).Between Jan 18, 2010, and July 25, 2022, 27 285 participants were recruited to RaDaR. Median follow-up time from diagnosis was 9·6 years (IQR 5·9-16·7). RaDaR participants had significantly higher 5-year cumulative incidence of kidney failure than 2·81 million UK patients with all-cause chronic kidney disease (28% vs 1%; p
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