Fabry disease presenting with renal disease as the main manifestation diagnosed by renal biopsy: a case report
Fabry′s disease is an X-linked recessive genetic disease, which is mainly due to the mutation of (galactosidase A, GLA) gene. The decrease or loss of GLA activity eventually leads to the deposition of its metabolic substrate in multiple organs of the body, in which the kidney and heart a...
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| Format: | Article |
| Language: | zho |
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Editorial Office of Journal of Diagnostics Concepts & Practice
2022-08-01
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| Series: | Zhenduanxue lilun yu shijian |
| Subjects: | |
| Online Access: | http://www.qk.sjtu.edu.cn/jdcp/fileup/1671-2870/PDF/1667814431489-23960331.pdf |
| _version_ | 1797975609635241984 |
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| author | HAO Xu, WANG Weiming |
| author_facet | HAO Xu, WANG Weiming |
| author_sort | HAO Xu, WANG Weiming |
| collection | DOAJ |
| description | Fabry′s disease is an X-linked recessive genetic disease, which is mainly due to the mutation of (galactosidase A, GLA) gene. The decrease or loss of GLA activity eventually leads to the deposition of its metabolic substrate in multiple organs of the body, in which the kidney and heart are the two main affected organs. This paper reports a case of Fabry disease without gene mutation and diagnosed by renal biopsy and derease of GLA activity[26.2 nmol/(mL·h·m)][refer-ence value: >37 nmol/(mL·h·m)], clarifying the role of renal pathology in the diagnosis of the disease. |
| first_indexed | 2024-04-11T04:38:16Z |
| format | Article |
| id | doaj.art-ae03f817bfb04601b6bf4864f4b4017e |
| institution | Directory Open Access Journal |
| issn | 1671-2870 |
| language | zho |
| last_indexed | 2024-04-11T04:38:16Z |
| publishDate | 2022-08-01 |
| publisher | Editorial Office of Journal of Diagnostics Concepts & Practice |
| record_format | Article |
| series | Zhenduanxue lilun yu shijian |
| spelling | doaj.art-ae03f817bfb04601b6bf4864f4b4017e2022-12-28T08:51:23ZzhoEditorial Office of Journal of Diagnostics Concepts & PracticeZhenduanxue lilun yu shijian1671-28702022-08-01210452752910.16150/j.1671-2870.2022.04.019Fabry disease presenting with renal disease as the main manifestation diagnosed by renal biopsy: a case reportHAO Xu, WANG Weiming0Department of Nephrology, Ruijin Hospital, Northern Branch,Shanghai Jiao Tong University School of Medicine, Shanghai 201800, ChinaFabry′s disease is an X-linked recessive genetic disease, which is mainly due to the mutation of (galactosidase A, GLA) gene. The decrease or loss of GLA activity eventually leads to the deposition of its metabolic substrate in multiple organs of the body, in which the kidney and heart are the two main affected organs. This paper reports a case of Fabry disease without gene mutation and diagnosed by renal biopsy and derease of GLA activity[26.2 nmol/(mL·h·m)][refer-ence value: >37 nmol/(mL·h·m)], clarifying the role of renal pathology in the diagnosis of the disease.http://www.qk.sjtu.edu.cn/jdcp/fileup/1671-2870/PDF/1667814431489-23960331.pdf|fabry disease|alpha-galactosidase a|gene mutation|proteinuria |
| spellingShingle | HAO Xu, WANG Weiming Fabry disease presenting with renal disease as the main manifestation diagnosed by renal biopsy: a case report Zhenduanxue lilun yu shijian |fabry disease|alpha-galactosidase a|gene mutation|proteinuria |
| title | Fabry disease presenting with renal disease as the main manifestation diagnosed by renal biopsy: a case report |
| title_full | Fabry disease presenting with renal disease as the main manifestation diagnosed by renal biopsy: a case report |
| title_fullStr | Fabry disease presenting with renal disease as the main manifestation diagnosed by renal biopsy: a case report |
| title_full_unstemmed | Fabry disease presenting with renal disease as the main manifestation diagnosed by renal biopsy: a case report |
| title_short | Fabry disease presenting with renal disease as the main manifestation diagnosed by renal biopsy: a case report |
| title_sort | fabry disease presenting with renal disease as the main manifestation diagnosed by renal biopsy a case report |
| topic | |fabry disease|alpha-galactosidase a|gene mutation|proteinuria |
| url | http://www.qk.sjtu.edu.cn/jdcp/fileup/1671-2870/PDF/1667814431489-23960331.pdf |
| work_keys_str_mv | AT haoxuwangweiming fabrydiseasepresentingwithrenaldiseaseasthemainmanifestationdiagnosedbyrenalbiopsyacasereport |