Heterozygous Urinary Abnormality-Causing Variants of
autosomal recessive Alport syndrome
benign familial
chronic
genetics
genotype-phenotype correlation
hematuria
hereditary
heterozygous mutation
kidney failure
nephritis
prognosis
prognostic predicting factor
retrospective studies
urinary abnormalities
Journal
Kidney360
ISSN: 2641-7650
Titre abrégé: Kidney360
Pays: United States
ID NLM: 101766381
Informations de publication
Date de publication:
24 09 2020
24 09 2020
Historique:
received:
21
10
2019
accepted:
15
07
2020
entrez:
4
4
2022
pubmed:
16
7
2020
medline:
8
4
2022
Statut:
epublish
Résumé
Autosomal recessive Alport syndrome (ARAS) is an inherited renal disorder caused by homozygous and compound heterozygous mutations in We retrospectively analyzed 49 patients with ARAS from 41 families with a median age of 19 years to examine the clinical features and prognostic factors of ARAS, including the associated genotypes. The median age of patients with ARAS at ESKD onset was 27 years. There was no significant association between the presence or absence of hearing loss or truncating mutations and renal prognosis. However, there was a statistically significant correlation between renal prognosis and heterozygous variants that cause urinary abnormalities. Where the urinary abnormality-causing variant was absent or present in only one allele, the median age of ESKD onset was 45 years, whereas the same variant present on both alleles was associated with an age of onset of 15 years ( This study was the first to demonstrate the clinical importance in ARAS of focusing on variants in
Sections du résumé
Background
Autosomal recessive Alport syndrome (ARAS) is an inherited renal disorder caused by homozygous and compound heterozygous mutations in
Methods
We retrospectively analyzed 49 patients with ARAS from 41 families with a median age of 19 years to examine the clinical features and prognostic factors of ARAS, including the associated genotypes.
Results
The median age of patients with ARAS at ESKD onset was 27 years. There was no significant association between the presence or absence of hearing loss or truncating mutations and renal prognosis. However, there was a statistically significant correlation between renal prognosis and heterozygous variants that cause urinary abnormalities. Where the urinary abnormality-causing variant was absent or present in only one allele, the median age of ESKD onset was 45 years, whereas the same variant present on both alleles was associated with an age of onset of 15 years (
Conclusions
This study was the first to demonstrate the clinical importance in ARAS of focusing on variants in
Identifiants
pubmed: 35369551
doi: 10.34067/KID.0000372019
pii: K3602019000037
pmc: PMC8815592
doi:
Substances chimiques
Autoantigens
0
COL4A4 protein, human
0
Collagen Type IV
0
type IV collagen alpha3 chain
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
936-942Informations de copyright
Copyright © 2020 by the American Society of Nephrology.
Déclaration de conflit d'intérêts
K. Iijima and K. Nozu have filed a patent application on the development of antisense nucleotides for exon skipping therapy in Alport syndrome. K. Nozu has received lecture fees from Novartis Pharmaceuticals and corporation and consulting fees from Kyowa Kirin Co., Ltd. All remaining authors have nothing to disclose.
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