Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report

BACKGROUND: Distal renal tubular acidosis (dRTA) is a heterogeneous disorder characterized by normal anion gap metabolic acidosis. Autosomal recessive dRTA is usually caused by mutations occurring in ATP6V1B1 and ATP6V0A4 genes,encoding subunits B1 and a4 of apical H(+)-ATPase, respectively. The het...

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Bibliographische Detailangaben
Veröffentlicht in:BMC Nephrol
Hauptverfasser: Zhao, Xiangzhong, Lu, Jingru, Gao, Yanxia, Wang, Xiaoling, Lang, Yanhua, Shao, Leping
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2018
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6297984/
https://ncbi.nlm.nih.gov/pubmed/30558562
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-018-1173-1
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