HDR syndrome presented with nephrotic syndrome in a Chinese boy: A case report  

作　　者：Li-Juan Ma Wu Yang Hong-Wen Zhang 

机构地区：[1]Department of Pediatrics,Peking University First Hospital Ningxia Women and Children’s Hospital,Yinchuan 750001,Ningxia Hui Autonomous Region,China [2]Department of Pediatric,Peking University First Hospital,Beijing 100034,China

出　　处：《World Journal of Clinical Cases》2024年第27期6111-6116,共6页世界临床病例杂志

摘　　要：BACKGROUND HDR syndrome is a rare genetic disease caused by variants in the GATA3 gene and is phenotypically defined by the triad of hypoparathyroidism(H),deafness(D),and renal disease(R).Renal disorders of HDR are mainly developmental ab-normalities,although renal functional abnormalities can also be observed.Ne-phrotic syndrome or nephrotic-level proteinuria is rare in HDR syndrome.Here,we report a Chinese infant with HDR syndrome who presented with early-onset nephrotic syndrome.We suggest that variants in the GATA3 gene might be asso-ciated with nephrotic syndrome.(p.Pro235 Leu),in exon 3 of the GATA3 gene.CONCLUSION We report an infant with HDR syndrome who presented with early-onset nephrotic syndrome in China.We suggest that variants in the GATA3 gene might be associated with infant-onset nephrotic syndrome.

关 键 词：HDR syndrome Sensorineural deafness Nephrotic syndrome China Case report 

分 类 号：R692[医药卫生—泌尿科学]