Hydroxychloroquine-induced renal phospholipidosis resembling Fabry disease in undifferentiated connective tissue disease: A case report

作     者：Song-Zhao Wu Xiang Liang Jian Geng Meng-Bi Zhang Na Xie Xiao-Yan Su 

作者机构：Nephrology DepartmentTungwah Hospital of Sun Yat-Sen UniversityDongguan 523000Guangdong ProvinceChina Department of PathologySchool of Basic Medical SciencesSouthern Medical UniversityGuangzhou 510515Guangdong ProvinceChina 

出 版 物：《World Journal of Clinical Cases》 (世界临床病例杂志)

年 卷 期：2019年第7卷第24期

页      面：4377-4383页

核心收录：

学科分类：1002[医学-临床医学] 10[医学] 

基　　金：Supported by the Dongguan Social Science and Technology Development Project No.2018507150461629 

主　　题：Fabry disease Undifferentiated connective tissue disease Hydroxychloroquine Renal phospholipidosis Case report 

摘      要：BACKGROUND Fabry disease is a kind of lysosomal storage disease resulting from deficient activity of the lysosomal hydrolase alpha-galactosidase A(GLA). A mutation in the GLA gene leads to a loss of activity of alpha-galactosidase A. Some drugs,such as hydroxychloroquine, can cause pathological changes similar to those usually seen in Fabry disease.CASE SUMMARY We report the case of a 41-year-old female patient who was diagnosed with undifferentiated connective tissue disease in 2008. Hydroxychloroquine treatment started 2 years ago, and proteinuria and hematuria increased. Renal biopsy demonstrated renal phospholipidosis. Zebra bodies and myelin figures were found by renal electron microscopy and were initially thought to be indicators of Fabry disease. A genetic analysis of the patient and her family members did not reveal mutations in the GLA gene, supporting a diagnosis of hydroxychloroquine-induced renal phospholipidosis.CONCLUSION This report reveals one of the adverse effects of hydroxychloroquine. We should pay more attention to hydroxychloroquine-induced renal phospholipidosis.