Hydroxychloroquine-induced renal phospholipidosis resembling Fabry disease in undifferentiated connective tissue disease: A case report
Identifieur interne : 000326 ( Pmc/Curation ); précédent : 000325; suivant : 000327Hydroxychloroquine-induced renal phospholipidosis resembling Fabry disease in undifferentiated connective tissue disease: A case report
Auteurs : Song-Zhao Wu ; Xiang Liang ; Jian Geng ; Meng-Bi Zhang ; Na Xie ; Xiao-Yan SuSource :
- World Journal of Clinical Cases [ 2307-8960 ] ; 2019.
Abstract
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
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
This report reveals one of the adverse effects of hydroxychloroquine. We should pay more attention to hydroxychloroquine-induced renal phospholipidosis.
Url:
DOI: 10.12998/wjcc.v7.i24.4377
PubMed: 31911921
PubMed Central: 6940343
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<author><name sortKey="Wu, Song Zhao" sort="Wu, Song Zhao" uniqKey="Wu S" first="Song-Zhao" last="Wu">Song-Zhao Wu</name>
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<author><name sortKey="Liang, Xiang" sort="Liang, Xiang" uniqKey="Liang X" first="Xiang" last="Liang">Xiang Liang</name>
</author>
<author><name sortKey="Geng, Jian" sort="Geng, Jian" uniqKey="Geng J" first="Jian" last="Geng">Jian Geng</name>
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<author><name sortKey="Zhang, Meng Bi" sort="Zhang, Meng Bi" uniqKey="Zhang M" first="Meng-Bi" last="Zhang">Meng-Bi Zhang</name>
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<author><name sortKey="Xie, Na" sort="Xie, Na" uniqKey="Xie N" first="Na" last="Xie">Na Xie</name>
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<author><name sortKey="Su, Xiao Yan" sort="Su, Xiao Yan" uniqKey="Su X" first="Xiao-Yan" last="Su">Xiao-Yan Su</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Hydroxychloroquine-induced renal phospholipidosis resembling Fabry disease in undifferentiated connective tissue disease: A case report</title>
<author><name sortKey="Wu, Song Zhao" sort="Wu, Song Zhao" uniqKey="Wu S" first="Song-Zhao" last="Wu">Song-Zhao Wu</name>
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<author><name sortKey="Liang, Xiang" sort="Liang, Xiang" uniqKey="Liang X" first="Xiang" last="Liang">Xiang Liang</name>
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<author><name sortKey="Geng, Jian" sort="Geng, Jian" uniqKey="Geng J" first="Jian" last="Geng">Jian Geng</name>
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<author><name sortKey="Zhang, Meng Bi" sort="Zhang, Meng Bi" uniqKey="Zhang M" first="Meng-Bi" last="Zhang">Meng-Bi Zhang</name>
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<author><name sortKey="Xie, Na" sort="Xie, Na" uniqKey="Xie N" first="Na" last="Xie">Na Xie</name>
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<author><name sortKey="Su, Xiao Yan" sort="Su, Xiao Yan" uniqKey="Su X" first="Xiao-Yan" last="Su">Xiao-Yan Su</name>
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<series><title level="j">World Journal of Clinical Cases</title>
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<front><div type="abstract" xml:lang="en"><sec><title>BACKGROUND</title>
<p>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 <italic>GLA</italic>
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.</p>
</sec>
<sec><title>CASE SUMMARY</title>
<p>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 <italic>GLA</italic>
gene, supporting a diagnosis of hydroxychloroquine-induced renal phospholipidosis.</p>
</sec>
<sec><title>CONCLUSION</title>
<p>This report reveals one of the adverse effects of hydroxychloroquine. We should pay more attention to hydroxychloroquine-induced renal phospholipidosis.</p>
</sec>
</div>
</front>
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<pmc article-type="case-report"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">World J Clin Cases</journal-id>
<journal-id journal-id-type="publisher-id">WJCC</journal-id>
<journal-title-group><journal-title>World Journal of Clinical Cases</journal-title>
</journal-title-group>
<issn pub-type="epub">2307-8960</issn>
<publisher><publisher-name>Baishideng Publishing Group Inc</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">31911921</article-id>
<article-id pub-id-type="pmc">6940343</article-id>
<article-id pub-id-type="other">jWJCC.v7.i24.pg4377</article-id>
<article-id pub-id-type="doi">10.12998/wjcc.v7.i24.4377</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Case Report</subject>
</subj-group>
</article-categories>
<title-group><article-title>Hydroxychloroquine-induced renal phospholipidosis resembling Fabry disease in undifferentiated connective tissue disease: A case report</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Wu</surname>
<given-names>Song-Zhao</given-names>
</name>
<aff>Nephrology Department, Tungwah Hospital of Sun Yat-Sen University, Dongguan 523000, Guangdong Province, China</aff>
</contrib>
<contrib contrib-type="author"><name><surname>Liang</surname>
<given-names>Xiang</given-names>
</name>
<aff>Nephrology Department, Tungwah Hospital of Sun Yat-Sen University, Dongguan 523000, Guangdong Province, China</aff>
</contrib>
<contrib contrib-type="author"><name><surname>Geng</surname>
<given-names>Jian</given-names>
</name>
<aff>Department of Pathology, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, Guangdong Province, China</aff>
</contrib>
<contrib contrib-type="author"><name><surname>Zhang</surname>
<given-names>Meng-Bi</given-names>
</name>
<aff>Nephrology Department, Tungwah Hospital of Sun Yat-Sen University, Dongguan 523000, Guangdong Province, China</aff>
</contrib>
<contrib contrib-type="author"><name><surname>Xie</surname>
<given-names>Na</given-names>
</name>
<aff>Nephrology Department, Tungwah Hospital of Sun Yat-Sen University, Dongguan 523000, Guangdong Province, China</aff>
</contrib>
<contrib contrib-type="author"><name><surname>Su</surname>
<given-names>Xiao-Yan</given-names>
</name>
<aff>Nephrology Department, Tungwah Hospital of Sun Yat-Sen University, Dongguan 523000, Guangdong Province, China.<email>suxiaoyan769@hotmail.com</email>
</aff>
</contrib>
</contrib-group>
<author-notes><fn><p>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.</p>
<p>Supported by <funding-source>the Dongguan Social Science and Technology Development Project</funding-source>
, No. <award-id>2018507150461629</award-id>
.</p>
<p>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. <email>suxiaoyan769@hotmail.com</email>
</p>
<p>Telephone: +86-13556758929 Fax: +86-769-22471628</p>
</fn>
</author-notes>
<pub-date pub-type="ppub"><day>26</day>
<month>12</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub"><day>26</day>
<month>12</month>
<year>2019</year>
</pub-date>
<volume>7</volume>
<issue>24</issue>
<fpage>4377</fpage>
<lpage>4383</lpage>
<history><date date-type="received"><day>4</day>
<month>9</month>
<year>2019</year>
</date>
<date date-type="rev-recd"><day>8</day>
<month>11</month>
<year>2019</year>
</date>
<date date-type="accepted"><day>23</day>
<month>11</month>
<year>2019</year>
</date>
</history>
<permissions><copyright-statement>©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.</copyright-statement>
<copyright-year>2019</copyright-year>
<license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by-nc/4.0/"><license-p>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.</license-p>
</license>
</permissions>
<abstract><sec><title>BACKGROUND</title>
<p>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 <italic>GLA</italic>
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.</p>
</sec>
<sec><title>CASE SUMMARY</title>
<p>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 <italic>GLA</italic>
gene, supporting a diagnosis of hydroxychloroquine-induced renal phospholipidosis.</p>
</sec>
<sec><title>CONCLUSION</title>
<p>This report reveals one of the adverse effects of hydroxychloroquine. We should pay more attention to hydroxychloroquine-induced renal phospholipidosis.</p>
</sec>
</abstract>
<kwd-group><kwd>Fabry disease</kwd>
<kwd>Undifferentiated connective tissue disease</kwd>
<kwd>Hydroxychloroquine</kwd>
<kwd>Renal phospholipidosis</kwd>
<kwd>Case report</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
</record>
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