Gaucher disease in a patient with membranoproliferative glomerulonephritis: case report
Abstrak
Abstract Background Gaucher disease (GD) is a rare autosomal recessive inherited, lysosomal storage disoder that involves liver, spleen, lung, bone, bone marrow even central nervous. However, GD associated membranoproliferative glomerulonephritis (MPGN) is seldom reported. Case presentation Here we described a case of 35-year-old man suffering from GD with hepatosplenomegaly, ascites, bone destruction, myelofibrosis and MPGN. Renal biopsy revealed MPGN and Gaucher cells presented in the glomeruli capillaries. β-glucosidase activity was 1.95nmol/1 h/mg and gene detection demonstrated that one homozygous pathogenic variant Leu483Pro in GBA. He received the treatment of oral prednisone and mycophenolate mofetil and his ascites and renal outcomes had been significantly improved. Conclusions Therapy of prednisone and mycophenolate mofetil may be an optional choice for patients with Gaucher disease who have no opportunity to use enzyme treatment.
Topik & Kata Kunci
Penulis (8)
Mengjun Liang
Shiyan Zhu
Shaoqin Liu
Jianquan Chen
Danni Li
Chengzhi Luo
Xiaowen Wang
Zongpei Jiang
Akses Cepat
- Tahun Terbit
- 2023
- Sumber Database
- DOAJ
- DOI
- 10.1186/s12882-023-03163-9
- Akses
- Open Access ✓