Wu SZ, Liang X, Geng J, Zhang MB, Xie N, Su XY. Hydroxychloroquine-induced renal phospholipidosis resembling Fabry disease in undifferentiated connective tissue disease: A case report. World J Clin Cases 2019; 7(24): 4377-4383 [PMID: 31911921 DOI: 10.12998/wjcc.v7.i24.4377]
Corresponding Author of This Article
Xiao-Yan Su, MD, Chief Doctor, Department Head, Nephrology Department, Tungwah Hospital of Sun Yat-Sen University, No. 1, Dongcheng East Road, Dongcheng District, Dongguan 523000, Guangdong Province, China. suxiaoyan769@hotmail.com
Research Domain of This Article
Pathology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Dec 26, 2019; 7(24): 4377-4383 Published online Dec 26, 2019. doi: 10.12998/wjcc.v7.i24.4377
Hydroxychloroquine-induced renal phospholipidosis resembling Fabry disease in undifferentiated connective tissue disease: A case report
Song-Zhao Wu, Xiang Liang, Jian Geng, Meng-Bi Zhang, Na Xie, Xiao-Yan Su
Song-Zhao Wu, Xiang Liang, Meng-Bi Zhang, Na Xie, Xiao-Yan Su, Nephrology Department, Tungwah Hospital of Sun Yat-Sen University, Dongguan 523000, Guangdong Province, China
Jian Geng, Department of Pathology, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, Guangdong Province, China
Author contributions: Wu SZ and Liang X contributed equally to this work; Su XY analyzed the samples pathologically and revised the manuscript; Wu SZ analyzed the samples pathologically and wrote the manuscript; Geng J analyzed the samples pathologically; Liang X provided the clinical information; Zhang MB and Xie N were involved in collecting and analyzing the data; all authors have read and approved the final manuscript.
Supported bythe Dongguan Social Science and Technology Development Project, No. 2018507150461629.
Informed consent statement: Consent was obtained from the patient for publication of this report.
Conflict-of-interest statement: The authors declare that they have no competing interests.
CARE Checklist (2016) statement: The guidelines of the CARE Checklist have been adopted.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Xiao-Yan Su, MD, Chief Doctor, Department Head, Nephrology Department, Tungwah Hospital of Sun Yat-Sen University, No. 1, Dongcheng East Road, Dongcheng District, Dongguan 523000, Guangdong Province, China. suxiaoyan769@hotmail.com
Telephone: +86-13556758929 Fax: +86-769-22471628
Received: September 4, 2019 Peer-review started: September 4, 2019 First decision: September 23, 2019 Revised: November 8, 2019 Accepted: November 23, 2019 Article in press: November 23, 2019 Published online: December 26, 2019 Processing time: 111 Days and 20.2 Hours
Abstract
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.
Core tip: Hydroxychloroquine-induced renal phospholipidosis is characterised by zebra bodies and myelin figures, mimicking nephropathy of Fabry disease. It reminds that clinical application of hydroxychloroquine should be careful. Moreover, drug-induced renal phospholipidosis should be considered as a differential diagnosis, especially when zebra bodies and myelin figures are found in the kidney.
