Expert consensus guidelines for the genetic diagnosis of Alport syndrome
J Savige, F Ariani, F Mari, M Bruttini, A Renieri… - Pediatric …, 2019 - Springer
Recent expert guidelines recommend genetic testing for the diagnosis of Alport syndrome.
Here, we describe current best practice and likely future developments. In individuals with …
Here, we describe current best practice and likely future developments. In individuals with …
Digenic alport syndrome
Digenic Alport syndrome refers to the inheritance of pathogenic variants in COL4A5 plus
COL4A3 or COL4A4 or in COL4A3 plus COL4A4. Where digenic Alport syndrome includes a …
COL4A3 or COL4A4 or in COL4A3 plus COL4A4. Where digenic Alport syndrome includes a …
Prevalence estimates of predicted pathogenic COL4A3–COL4A5 variants in a population sequencing database and their implications for Alport syndrome
Background The reported prevalence of Alport syndrome varies from one in 5000 to one in
53,000 individuals. This study estimated the frequencies of predicted pathogenic COL4A3 …
53,000 individuals. This study estimated the frequencies of predicted pathogenic COL4A3 …
Guidelines for genetic testing and management of Alport syndrome
Genetic testing for pathogenic COL4A3–5 variants is usually undertaken to investigate the
cause of persistent hematuria, especially with a family history of hematuria or kidney function …
cause of persistent hematuria, especially with a family history of hematuria or kidney function …
[HTML][HTML] A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases
G Bullich, A Domingo-Gallego, I Vargas, P Ruiz… - Kidney international, 2018 - Elsevier
Molecular diagnosis of inherited kidney diseases remains a challenge due to their
expanding phenotypic spectra as well as the constantly growing list of disease-causing …
expanding phenotypic spectra as well as the constantly growing list of disease-causing …
Alport syndrome and Pierson syndrome: diseases of the glomerular basement membrane
SD Funk, MH Lin, JH Miner - Matrix Biology, 2018 - Elsevier
The glomerular basement membrane (GBM) is an important component of the kidney's
glomerular filtration barrier. Like all basement membranes, the GBM contains type IV …
glomerular filtration barrier. Like all basement membranes, the GBM contains type IV …
[HTML][HTML] Genetic basis of type IV collagen disorders of the kidney
C Quinlan, MN Rheault - Clinical Journal of the American Society …, 2021 - journals.lww.com
The glomerular basement membrane is a vital component of the filtration barrier of the
kidney and is primarily composed of a highly structured matrix of type IV collagen. Specific …
kidney and is primarily composed of a highly structured matrix of type IV collagen. Specific …
Digenic inheritance and genetic modifiers
C Deltas - Clinical genetics, 2018 - Wiley Online Library
Digenic inheritance (DI) concerns pathologies with the simplest form of multigenic etiology,
implicating more than 1 gene (and perhaps the environment). True DI is when biallelic or …
implicating more than 1 gene (and perhaps the environment). True DI is when biallelic or …
The 2019 and 2021 international workshops on Alport syndrome
In 1927 Arthur Cecil Alport, a South African physician, described a British family with an
inherited form of kidney disease that affected males more severely than females and was …
inherited form of kidney disease that affected males more severely than females and was …
[HTML][HTML] Alport syndrome
S Watson, SA Padala, MF Hashmi, JS Bush - StatPearls [Internet], 2023 - ncbi.nlm.nih.gov
Alport Syndrome - StatPearls - NCBI Bookshelf US flag An official website of the United
States government Here's how you know NIH NLM Logo Access keys NCBI Homepage …
States government Here's how you know NIH NLM Logo Access keys NCBI Homepage …