Clinical course and pathological findings of two late-onset Fabry hemizygous patients including mulberry cell counts after enzyme replacement therapy
| Autor: | Masaki Kobayashi, Hiroshi Maruyama, Marina Yamashita, Kouichi Hirayama, Kentaro Ohgi, Mamiko Takayasu, Homare Shimohata |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
Male Nephrology medicine.medical_specialty Biopsy 030232 urology & nephrology Globotriaosylceramide Cell Count Case Report 030204 cardiovascular system & hematology Kidney Gastroenterology Glycosphingolipids Late Onset Disorders 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Asian People Internal medicine medicine Humans Enzyme Replacement Therapy Pathological medicine.diagnostic_test Podocytes business.industry General Medicine Enzyme replacement therapy Middle Aged medicine.disease Fabry disease Angiokeratoma Microscopy Electron Proteinuria Phenotype Treatment Outcome Renal pathology chemistry Fabry Disease Kidney Diseases Morus Renal biopsy Cardiomyopathies business |
| Zdroj: | CEN Case Rep |
| ISSN: | 2192-4449 |
| DOI: | 10.1007/s13730-020-00463-z |
| Popis: | Fabry disease is an X-linked inherited lysosomal storage disorder caused by a deficiency of α-galactosidase A activity, resulting in the intracellular accumulation of globotriaosylceramide and related glycosphingolipids. The phenotypes of Fabry disease in both males and females are grouped into two categories: the classical type and the late-onset type. The classical type shows general symptoms including angiokeratoma(s), acroparesthesia, hypohidrosis, corneal opacity, and gastrointestinal symptoms from an early age. The late-onset type shows cardiac or renal (or both) symptoms from a late age. We present herein the clinical course and pathological findings of two late-onset hemizygous Fabry patients after the initiation of enzyme replacement therapy (ERT), along with their mulberry cell counts during treatment. One patient’s case was a renal-variant type without general symptoms; he showed stable renal function and mild proteinuria but little histological improvement with no change in the mulberry cell count during ERT. The other patient had a cardiac-variant type with renal pathological abnormality. He achieved a mild improvement of renal pathological findings, and his mulberry cell count gradually decreased during the treatment. These findings indicate that monitoring the mulberry cell count might help assess the efficacy of ERT, as a renal pathology tool. |
| Databáze: | OpenAIRE |
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