ZNF423基因突变致肾消耗病肾衰竭1例  

A case report of nephronophthisis caused by ZNF423 gene mutation leading to renal failure

作　　者：黄文文 彭杨培 郑育[1] 郑淑蓓[1] Huang Wenwen;Peng Yangpei;Zheng Yu;Zheng Shubei(Department of Nephrology,the Second Affiliated Hospital of Wenzhou Medical University,Wenzhou 325000,China)

机构地区：[1]温州医科大学附属第二医院肾内科,温州325000

出　　处：《中华肾脏病杂志》2024年第9期746-748,共3页Chinese Journal of Nephrology

摘　　要：肾消耗病(nephronophthisis,NPHP)是一种罕见的常染色体隐性遗传疾病,是儿童和青少年进行性肾衰竭的重要原因。该文报道1例17岁男性NPHP病例,因“呕吐乏力10 d,加重1 d”入院,实验室检查结果显示血肌酐显著升高、贫血、低钙血症、高磷血症、高钾血症及代谢性酸中毒,诊断为“肾衰竭”。全外显子组测序结果显示存在肾衰竭相关表型的ZNF423基因c.1436T>C(p.Val479Ala)杂合变异,该变异为新突变位点。该病例为NPHP的遗传基因分析提供了新的方向。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.

关 键 词：肾功能衰竭 慢性 突变 纤毛病 肾消耗病 ZNF423基因 

分 类 号：R692.5[医药卫生—泌尿科学]