A case report of nephronophthisis caused by ZNF423 gene mutation leading to renal failure
10.3760/cma.j.cn441217-20231218-01234
- VernacularTitle:ZNF423基因突变致肾消耗病肾衰竭1例
- Author:
Wenwen HUANG
1
;
Yangpei PENG
;
Yu ZHENG
;
Shubei ZHENG
Author Information
1. 温州医科大学附属第二医院肾内科，温州 325000
- Keywords:
Kidney failure, chronic;
Mutation;
Ciliopathies;
Nephronophthisis;
ZNF423 gene
- From:
Chinese Journal of Nephrology
2024;40(9):746-748
- CountryChina
- Language:Chinese
-
Abstract:
Nephronophthisis (NPHP) is a rare autosomal recessive inheritance disease that is an important cause of renal failure in children and adolescents. The paper reports a 17-year-old male NPHP patient, admitted to the hospital with "vomiting and fatigue for 10 days, aggravated for 1 day", diagnosed with "kidney failure" after test results showed a significant increase in serum creatinine, anemia, hypocalcemia, hyperphosphatemia, hyperkalemia, and metabolic acidosis. Heterozygous variants in the ZNF423 gene c.1436T>C (p.Val479Ala), a novel mutation site, was identified in the patient by whole exome sequencing for renal failure-associated phenotypes, which provides a new direction for genetic and hereditary analysis of NPHP.
