WAGR syndrome combined with end-stage renal disease: a case report
10.3760/cma.j.cn101070-20240207-00078
- VernacularTitle:WAGR综合征合并终末期肾病1例
- Author:
Jingyi YANG
1
;
Xiaorong LIU
Author Information
1. 国家儿童医学中心，首都医科大学附属北京儿童医院肾脏内科，北京 100045
- Keywords:
Nephroblastoma;
WAGR syndrome;
End-stage renal disease
- From:
Chinese Journal of Applied Clinical Pediatrics
2024;39(10):780-783
- CountryChina
- Language:Chinese
-
Abstract:
The clinical data of a child with WAGR syndrome combined with end-stage renal disease admitted to the Department of Nephrology, Beijing Children′s Hospital, Capital Medical University in April 2023 was retrospectively analyzed.After a review of domestic and foreign literatures, the long-term renal function of children with WAGR syndrome was summarized.A boy, aged 11 years and 11 months, presented with a poor appetite as the initial symptom, and had markedly elevated creatinine and an estimated glomerular filtration rate of 14.96 mL/(min·1.73m 2).The inquiry about the medical history showed that the child was born with aniridia, had a history of nephroblastoma, and was mentally retarded.Gene sequencing revealed a copy number deletion of approximately 5.38 Mb in the short arm of chromosome 11, 11p14.2p13, which led to the diagnosis of WAGR syndrome.There is currently no cure for WAGR syndrome, while the detection rate of the disease has further increased with an improved understanding of the disease and extensive use of genetic testing.However, there is a lack of data on long-term renal function in children with WAGR syndrome in China.This report is the first instance of a child with WAGR syndrome progressing to end-stage renal failure in China, highlighting the significance of early identification and prompt molecular diagnosis of suspected WAGR syndrome in infancy and childhood and the importance of monitoring renal function and metabolism index of the diagnosed child from prepuberty to adulthood.In addition, the life-cycle management of children with WAGR syndrome is suggested.
