1. [A case of Anderson-Fabry disease: a multidisciplinary approach for diagnosis and follow up].
- Author
-
Zito A, De Pascalis A, Armeni A, Ria P, Barbarini L, Caggiula M, My F, Barbarini S, Trianni G, and Napoli M
- Subjects
- Cerebral Hemorrhage etiology, Early Diagnosis, Enzyme Replacement Therapy, Fabry Disease complications, Fabry Disease drug therapy, Genetic Testing, Humans, Hypertrophy, Left Ventricular etiology, Kidney Failure, Chronic etiology, Kidney Failure, Chronic therapy, Male, Middle Aged, Mutation, Missense, Pedigree, Point Mutation, alpha-Galactosidase genetics, alpha-Galactosidase therapeutic use, Fabry Disease diagnosis
- Abstract
Fabry disease (also known as Anderson-Fabry disease, angiocheratoma corporis diffusum, diffuse angiocheratoma) is a rare tesaurismosis linked to the deficiency of the lysosomal enzyme alpha-galactosidase A, required for the physiological catabolism of glycosphingolipids. The related clinical signs show a multisystemic feature and define a degenerative and disabling pathology, whose approach requires a close multidisciplinary specialist collaboration. Currently, the renewed interest in the disease is aimed at the need to provide an early diagnosis, in order to early begin the enzyme replacement therapy and to slow down or avoid the establishment of irreparable organ damage. For this reason, the diagnostic suspicion becomes crucial and arises from the careful observation and research of the symptoms, together with the anamnesis and the overall clinical evaluation of the patient., (Copyright by Società Italiana di Nefrologia SIN, Rome, Italy.)
- Published
- 2018