戈谢病合并膜增殖性肾小球肾炎 1 例报告

Gaucher disease in a patient with membranoproliferative glomerulonephritis: case report.

机构信息

Department of Nephrology, The Sixth Affiliated Hospital, Sun Yat-sen University, 26 Yuancun Er Heng Road, 510655, Guangzhou, China.

Department of Nephrology, The Third Affiliated Hospital of Guangdong Medical University, 39th, Donghua Road, Longjiang, Foshan, China.

出版信息

BMC Nephrol. 2023 Sep 29;24(1):287. doi: 10.1186/s12882-023-03163-9.

DOI:10.1186/s12882-023-03163-9

PMID:37773105

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10541703/

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.

摘要

背景

戈谢病（GD）是一种罕见的常染色体隐性遗传性溶酶体贮积病，涉及肝脏、脾脏、肺、骨骼、骨髓甚至中枢神经系统。然而，戈谢病相关的膜增殖性肾小球肾炎（MPGN）很少有报道。

病例介绍

本文描述了 1 例 35 岁男性戈谢病患者，表现为肝脾肿大、腹水、骨破坏、骨髓纤维化和 MPGN。肾活检显示 MPGN 和戈谢细胞出现在肾小球毛细血管中。β-葡萄糖脑苷脂酶活性为 1.95nmol/1h/mg，基因检测显示 GBA 中的 Leu483Pro 纯合致病性变异。他接受了口服泼尼松和霉酚酸酯治疗，腹水和肾脏结局得到了显著改善。