The distal renal tubular acidosis caused by ATP6V1B1 gene mutation:a case report
10.3969/j.issn.1000-3606.2017.06.005
- VernacularTitle:ATP6V1B1基因突变致远端肾小管酸中毒1例报告
- Author:
Lingyang XU
;
Baowang YANG
- Keywords:
distal renal tubular acidosis;
gene detection;
inherited metabolic disorders
- From:
Journal of Clinical Pediatrics
2017;35(6):415-417
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical features and gene diagnosis of the distal renal tubular acidosis (dRTA). Methods The clinical data and gene detection results of one child with dRTA were retrospectively analyzed. The related literatures were reviewed. Results Four-month-old female was admitted with frequent vomiting and hearing impairment. The laboratory examination showed refractory hypokalemia and it was difficult to correct metabolic acidosis. Gene detection found a new mutation on ATP6V1B1 gene. The diagnosis of dRTA was confirmed. Conclusions dRTA is a rare disease, ATP6V1B1 gene is the causative gene of the dRTA with sensorineural deafness.
