A Case Study of Fabry Nephropathy and Its Progression: the First Reported Case in Malaysia
Abstract Fabry disease (FD) is a rare metabolic disorder caused by the genetic deficiency of the lysosomal hydrolase alpha-galactosidase A, causing common and serious kidney complications. We report the first case of Fabry disease detected in Malaysia. A 35-year-old man had an incidental finding of proteinuria during routine health screening. His symptoms included frothy urine and intermittent lower limb swelling. Renal biopsy showed features of Fabry’s disease which was confirmed with genetic testing. He had classical hemizygous Fabry disease of c.610 C > T with Fabry nephropathy, cardiomyopathy, and cornea verticillata. He was then started on enzyme replacement therapy (ERT) with agalsidase till date. Proteinuria is the predominant factor in Fabry nephropathy predicting renal disease progression rate. Early Fabry disease diagnosis could prevent kidney disease progression through the timely initiation of treatment which will help enhance the quality of life of the patient, as the disease progresses..
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2022 |
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| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:4 |
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| Enthalten in: |
SN comprehensive clinical medicine - 4(2022), 1 vom: 06. Aug. |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Ting, Ingrid Pao Lin [VerfasserIn] |
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| Links: |
Volltext [lizenzpflichtig] |
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| Themen: |
Case report |
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| Anmerkungen: |
© The Author(s), under exclusive licence to Springer Nature Switzerland AG 2022. Springer Nature or its licensor holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. |
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| doi: |
10.1007/s42399-022-01259-1 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 520 | |a Abstract Fabry disease (FD) is a rare metabolic disorder caused by the genetic deficiency of the lysosomal hydrolase alpha-galactosidase A, causing common and serious kidney complications. We report the first case of Fabry disease detected in Malaysia. A 35-year-old man had an incidental finding of proteinuria during routine health screening. His symptoms included frothy urine and intermittent lower limb swelling. Renal biopsy showed features of Fabry’s disease which was confirmed with genetic testing. He had classical hemizygous Fabry disease of c.610 C > T with Fabry nephropathy, cardiomyopathy, and cornea verticillata. He was then started on enzyme replacement therapy (ERT) with agalsidase till date. Proteinuria is the predominant factor in Fabry nephropathy predicting renal disease progression rate. Early Fabry disease diagnosis could prevent kidney disease progression through the timely initiation of treatment which will help enhance the quality of life of the patient, as the disease progresses. | ||
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