Familial hematuria: A review

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F17%3A10373921" target="_blank" >RIV/00216208:11130/17:10373921 - isvavai.cz</a>

Alternative codes found

RIV/00843989:_____/17:E0106095 RIV/00064203:_____/17:10373921

Result on the web

<a href="https://doi.org/10.1016/j.medici.2017.01.002" target="_blank" >https://doi.org/10.1016/j.medici.2017.01.002</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.medici.2017.01.002" target="_blank" >10.1016/j.medici.2017.01.002</a>

Result language

angličtina

Original language name

Familial hematuria: A review

Original language description

The most frequent cause of familial glomerular hematuria is thin basement membrane nephropathy (TBMN) caused by germline COL4A3 or COL4A4 gene mutations. Less frequent but important cause with respect to morbidity is Alport syndrome caused by germline COL4A5 gene mutations. The features of Alport syndrome include hematuria, proteinuria and all males with X-linked disease and all individuals with recessive disease will develop end stage renal disease, usually at early youth. In X-linked Alport syndrome, a clear genotype-phenotype correlation is typically observed in men. Deleterious COL4A5 mutations are associated with a more severe renal phenotype and more frequent high-frequency sensorineural hearing loss and ocular abnormalities. Less severe COL4A5 mutations result in a milder phenotype, with less frequent and later onset extrarenal anomalies. The phenotype in females is highly variable, mostly due to inactivation of one of the X chromosomes. Isolated cases may be caused by de novo COL4A5 mutations or by gonosomal mosaicism. Untreated autosomal recessive Alport syndrome, caused by COL4A3 and COL4A4 mutations, is typically associated with ESRD at the age of 23-25 years and extrarenal symptoms in both men and women. The TBMN phenotype is associated with heterozygous carriers of COL4A3, COL4A4 mutations. Molecular genetic testing is the gold standard for diagnosing these diseases. Although genotype-phenotype correlations exist, the phenotype is influenced by modifying factors, which remain mainly undefined. No therapy is available that targets the cause of Alport syndrome; angiotensin-converting enzyme inhibitor therapy delays renal failure and improves lifespan. (C) 2017 The Lithuanian University of Health Sciences. Production and hosting by Elsevier Sp. z o.o.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30209 - Paediatrics

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2017

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Medicina (Kaunas, Lithuania)

ISSN

1010-660X

e-ISSN

—

Volume of the periodical

53

Issue of the periodical within the volume

1

Country of publishing house

LT - LITHUANIA

Number of pages

10

Pages from-to

1-10

UT code for WoS article

000399356900001

EID of the result in the Scopus database

2-s2.0-85013467013