Rare Etiology of Renal Failure in a 25-Year-Old Caucasian Man: Fabry Disease With a Novel Mutation of GLA Gene
| Autor: | Kyaw M Hlaing, Jane Lindsay, Salem Gaballa, Kashyap Patel, Avan AlJaf |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
renal failure
Pathology medicine.medical_specialty medicine.medical_treatment Globotriaosylceramide 030204 cardiovascular system & hematology 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine painful neuropathy Genetics Internal Medicine medicine Lysosomal storage disease fabry's disease medicine.diagnostic_test business.industry General Engineering Enzyme replacement therapy medicine.disease Fabry's disease Fabry disease Peripheral neuropathy lysosomal storage disease chemistry Nephrology α-galactosidase a activity Hemodialysis Renal biopsy business 030217 neurology & neurosurgery enzyme replacement therapy |
| Zdroj: | Cureus |
| ISSN: | 2168-8184 |
| DOI: | 10.7759/cureus.9136 |
| Popis: | Fabry disease (FD) is an X-linked recessive lysosomal storage disease caused by a mutation of the galactosidase alpha (GLA) gene, leading to deficiency of α-galactosidase A (alpha-Gal A). This deficiency results in a progressive, multiorgan accumulation of glycolipids, most notably globotriaosylceramide (Gb3), leading to multiorgan failure and subsequently premature death. Gb3 accumulation in the podocytes, epithelial, and mesangial cells of the glomeruli results in progressive renal disease and eventually renal failure and hemodialysis (HD). There are two types of FD: early-onset classical type 1 and late-onset type 2. Although nearly a thousand mutations of the GLA gene have been identified, the majority of them are of unknown significance. Herein we report the case of a 25-year-old Caucasian male with no significant medical history who presented with peripheral neuropathy and end-stage renal failure, requiring HD. He was diagnosed with FD based on the electron microscopy findings of renal biopsy and severely reduced alpha-Gal A activity (T; p.Cys94Phe was identified. On discharge from our facility, he was referred to a renal transplant center and genetic counseling. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|