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

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

Abstract 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. T...

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Bibliographic Details
Main Authors: Xiangzhong Zhao, Jingru Lu, Yanxia Gao, Xiaoling Wang, Yanhua Lang, Leping Shao
Format: Article
Language:English
Published: BMC 2018-12-01
Series:BMC Nephrology
Subjects:
Distal renal tubular acidosis
ATP6V1B1 gene
Sensorineural hearing loss
Enlarged vestibular aqueduct
Online Access:http://link.springer.com/article/10.1186/s12882-018-1173-1

Internet

http://link.springer.com/article/10.1186/s12882-018-1173-1

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