Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis. (September 2014)

• Record Type: Journal Article
• Authors: Gao, Yanxia; Xu, Yan; Li, Qingyang; Lang, Yanhua; Dong, Qian; Shao, Leping
• Is Part Of: Renal failure. Volume 36:Number 8(2014)
• Page Start: 1226
• Page End: 1232
• Publication Date: 2014-09
• Subjects: Chronic renal failure -- Periodicals; Acute renal failure -- Periodicals; Uremia -- Periodicals; 616.614005
• DOI: 10.3109/0886022X.2014.930332
• Languages: English
• ISSNs: 0886-022X

Abstract

<abstract> <title>Abstract</title> <p>The objective of this study is to identify <italic>ATP6V1B1, ATP6V0A4</italic> and <italic>SLC4A1</italic> genes mutations and assess audiologic characteristics in six Chinese children with primary distal renal tubular acidosis from four unrelated families between the ages of 2 and 13 years. Both <italic>ATP6V0A4</italic> and <italic>ATP6V1B1</italic> genes were preferentially screened in all index cases by direct sequence analysis. If inconclusive then <italic>SLC4A1</italic> gene should be analyzed for mutation. Their clinical features, hearing status and inner ear imaging structure were also investigated. Six loss-of-function mutations were identified in six patients. Two novel mutations were identified in either of <italic>ATP6V0A4</italic> and <italic>ATP6V1B1</italic> genes, respectively. Two probands from different kindreds with mutations in <italic>ATP6V1B1</italic> presented early onset profound sensorineural hearing loss (SNHL) and enlarged vestibular aqueduct (EVA). Two from different families carrying <italic>ATP6V0A4</italic> mutations manifested early onset moderate mixed HL and moderate SNHL, respectively, the former comorbid with EVA, while the latter not; however, both their elder sisters showed normal hearing and inner ear. These findings expand the spectrum of mutations in the <italic>ATP6V0A4</italic> and <italic>ATP6V1B1</italic> genes associated with primary dRTA. Our study confirms the association of EVA and mutations in either of these two genes. More studies are necessary to clarify the relationship between dRTA, SNHL, EVA, and gene mutations.</p> </abstract>