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Tropical Journal of Pharmaceutical Research
Pharmacotherapy Group, Faculty of Pharmacy, University of Benin, Benin City, Nigeria
ISSN: 1596-5996 EISSN: 1596-5996
Vol. 15, No. 11, 2016, pp. 2527-2530
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Bioline Code: pr16332
Full paper language: English
Document type: Case Report
Document available free of charge
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Tropical Journal of Pharmaceutical Research, Vol. 15, No. 11, 2016, pp. 2527-2530
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A case report on ATP6V0A4 gene mutation: Forecast of familial deafness by genetic investigation in a patient with autosomal recessive distal renal tubular acidosis
Zheng, Weihua; Wu, Ying & Huang, Wenyan
Abstract
The autosomal recessive form of distal renal tubular acidosis (dRTA), a condition associated with the
systemic accumulation of acid owing to its reduced elimination through kidneys, is caused by
ATP6V0A4 mutation, which is typically related to either late-onset sensorineural hearing loss (SNHL) or
normal hearing. This article reports dRTA in seven year old boy, born to a Chinese couple who have
family history of deafness. The patient does not have hearing impairment. ATP6V0A4 gene sequencing
demonstrated that there were 2 heterozygous mutations, c.1376C>T and c.1029+5G>A, in gene
ATP6V0A4. c.1376C > T (p.Ser459Phe) is a kind of missense mutation in gene ATP6V0A4.
c.1029+5G>A is a kind of intragenic mutation near the cutting area of gene ATP6V0A4. ATP6V0A4
gene mutation study substantiated the autosomal recessive dRTA without hearing impairment in the
patient. This case report emphasizes the significance of early diagnosis and genetic screening of
recessive forms of dRTA independent of hearing status and offer suitable intervention to treat dRTA as
well as diminish the influence of SNHL on the child’s learning and communication in daily life.
Keywords
Renal tubular acidosis; Homeostasis; Electrolytes; Hearing impairment; ATP6V0A4 gene; Mutation
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