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Saudi Journal of Kidney Diseases and Transplantation
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CASE REPORT Table of Contents   
Year : 2019  |  Volume : 30  |  Issue : 6  |  Page : 1442-1446
A rare case of autosomal recessive ATP6V0A4 variant of distal renal tubular acidosis in a young female with recurrent nephrolithiasis


1 Department of Internal Medicine, Sri Ramachandra Institute of Higher Education and Research, Porur, Chennai, Tamil Nadu, India
2 Department of Internal Medicine, Pondicherry Institute of Medical Sciences and Madras Medical Mission Hospital, Chennai, Tamil Nadu, India
3 Department of Obstetrics and Gynecology, Madras Medical Mission Hospital, Chennai, Tamil Nadu, India
4 Department of Nephrology, Madras Medical Mission Hospital, Mogappair, Chennai, Tamil Nadu, India

Correspondence Address:
Georgi Abraham
Department of Internal Medicine, Pondicherry Institute of Medical Sciences and Madras Medical Mission Hospital, Mogappair, Chennai, Tamil Nadu
India
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DOI: 10.4103/1319-2442.275490

PMID: 31929293

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Homozygous autosomal recessive distal renal tubular acidosis (dRTA) is a rare entity. The intercalated cells in the collecting ducts are defective in apical proton secretion or basolateral bicarbonate reabsorption, due to mutations in genes encoding for proteins in a4 and B1 subunits of the V-ATPase and the anion exchanger Cl-/HCO- (kAE1). This results in decreased ammonium (NH4+) excretion and defective urine acidification. dRTA is characterized by hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitranuria, and nephrocalcinosis. Autosomal recessive dRTA is associated with mutation in ATP6V1B1 (2p13) or ATP6V0A4 (7q34) genes. ATP6V1B1 mutation is associated with early – onset sensory neural hearing loss (SNHL), whereas ATP6V0A4 gene mutation may be associated with early-to late-onset SNHL. We report the case of a 30-year-old married woman diagnosed with dRTA at three months of age with mild SNHL, showing homogygous nonsense mutation in exon 3 of the ATP6V0A4 gene that resulted in a stop codon and premature truncation of the protein at codon 6.


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