Clinical Features and Genetic Findings in Chinese Children with Distal Renal Tubular Acidosis

Overview

Journal Int J Clin Exp Pathol

Specialty Pathology

Date 2020 Jan 18

PMID 31949730

Citations 7

Authors

Fang Zhou

Jianhua Mao

Qing Ye

Xiujuan Zhu

Yingying Zhang

Yuhong Ye

Haidong Fu

Huijun Shen

Zhihong Lu

Yonghui Xia

Aimin Liu

Qiang Shu

Lizhong Du

Affiliations

Soon will be listed here.

Abstract

Distal renal tubular acidosis (dRTA) is characterized by metabolic acidosis due to uric acid dysfunction. The aim of this study was to demonstrate the genetic diagnosis of Chinese children with dRTA by whole-exome sequencing. From Jan. 2010 to Sept. 2015, 16 children with dRTA were recruited to investigate the possibility of genetic diagnosis and to examine any genotype-phenotype relationships in these patients. Sanger sequencing was used to confirm mutations identified by whole-exome sequencing. Clinical and biological features in the patients included hyperchloremic metabolic acidosis, impaired growth, hypokalemia, nephrocalcinosis, nephrolithiasis, hypercalciuria, hypocitraturia, and rickets or osteomalacia. Seventeen mutations in the solute carrier family 4 member 1 (, ATPase H+ transporting V0 subunit a4 and the claudin 16 () were identified in 15 patients, and 14 of these mutations are novel. Only 1 patient was negative for any mutations. Our results demonstrate the existence of , , , and mutations in Chinese children with dRTA and indicate that compound heterozygosity at 2 or more different but related genes can be responsible for its pathogenesis. This study also indicates that whole-exome sequencing is a labor and cost-effective means of analyzing dRTA-associated genes.

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