A case report and literature review of type I Gaucher disease complicated with membranoproliferative glomerulonephritis
10.3760/cma.j.cn441217-20240506-00501
- VernacularTitle:I型Gaucher病合并膜增生性肾小球肾炎1例并文献复习
- Author:
Xinyao ZHU
1
;
Kunfang HUO
;
Bing LUO
;
Qin LUO
;
Jianquan CHEN
Author Information
1. 广东药科大学2020级临床医学部，广州510006
- Publication Type:Journal Article
- Keywords:
Gaucher disease;
Glomerulonephritis, membranoproliferative;
Fibrosis;
Beta-glucosidase
- From:
Chinese Journal of Nephrology
2025;41(2):134-137
- CountryChina
- Language:Chinese
-
Abstract:
Gaucher disease is an autosomal recessive genetic disorder, with membranoproliferative glomerulonephritis (MPGN) being a rare complication. Here we present a case of type I Gaucher disease complicated with MPGN to improve the understanding of this disease. For patients presenting with abdominal distension, hepatosplenomegaly and myelofibrosis, Gaucher disease should be considered to avoid misdiagnosis and inappropriate treatment. The detection of β-glucosidase, genetic mutation analysis and histopathological examination can play crucial roles in the diagnosis of Gaucher disease. Treatment with glucocorticoids combination with immunosuppressants can improve patient's prognosis.
