A case report of Fabry disease in a child with non-singular nocturnal enuresis as the first symptom and literature review

VernacularTitle:以非单一症状夜间遗尿起病的儿童法布里病1例及文献复习
Author: Zhihong LU ¹ ; Qianhui WANG ¹ ; Aiqin SHENG ¹ ; Haidong FU ¹ ; Jianhua MAO ¹
Author Information

1. 浙江大学医学院附属儿童医院肾脏内科　国家儿童健康与疾病临床医学研究中心，杭州　310052
Publication Type:Journal Article
Keywords: Fabry disease; Child; Nocturnal enuresis; Mulberry body
From: Chinese Journal of Nephrology 2025;41(6):442-444
CountryChina
Language:Chinese
Abstract: The paper reports a case of Fabry disease in a child with non-singular nocturnal enuresis as the first symptom. The boy developed unexplained nocturnal enuresis with frequent daytime urination since the age of 6. Fabry disease was detected and diagnosed by chance through high-risk screening. The activity of α-galactosidase A by dry blood spot was 1.97 μmol·L -1·h -1 , and there was c.640-801G>A mutation in GLA gene. Urine routine, urinary microprotein and renal function were normal. However, there were mulberry bodies found in urine deposition microscopy, suggesting the presence of kidney injury. This case suggests that enuresis can be the first symptom of Fabry disease, and mulberry bodies can be seen in the urine at the early stage of the disease.