Journal of Shandong University (Health Sciences) ›› 2021, Vol. 59 ›› Issue (11): 67-71.doi: 10.6040/j.issn.1671-7554.0.2021.0902

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Distal tubular acidosis caused by homozygous deletion of ATP6V0A4 gene: a case report and 12 years follow-up analysis

WU Xia, WANG Wenhong   

  1. Department of Nephrology, Tianjin Childrens Hospital(Childrens Hospital of Tianjin University), Tianjin 300000, China
  • Published:2021-11-11

Abstract: Objective To analyze the clinical features, genotypes and prognosis of distal tubular acidosis(dRTA)(MIM602722). Methods The clinical data of a child with dRTA were retrospectively analyzed and a literature review was performed. Results The full-term cesarean section boy did not gain weight on the 34th day after birth. The blood gas analysis showed the hyperchlorinated acidosis with normal anion gap, hypokalemia, alkaline urine, renal pyramidal calcification, and renal osteopathy. The child was followed up for 12 years. After treatment with citric acid mixture, the childs physical development caught up to normal, and renal osteopathy disappeared. The child developed hearing impairment, proteinuria and renal impairment at the age of 11. Gene sequencing showed that there was a homozygous deletion in exon 3-5 of APT6V0A4 gene. Both parents had a loss of heterozygosity in this gene. This mutation was pathogenic and consistent with the diagnosis of autosomal recessive dRTA. Conclusion Early intervention should be given to younger patients with dRTA to achieve satisfactory physical development outcome. Gene sequencing is an important means to determine the genetic pathogenic factors, which can predict the long-term prognosis. It is of great significance for genetic counseling and should be followed up for a long time.

Key words: Distal renal tubular acidosis, ATP6V0A4 gene, Hypokalemia, Acidosis, Hearing loss

CLC Number: 

  • R725.9
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