Fabry disease: diagnosis of a rare disorder / Doença de fabry: diagnóstico de uma doença rara
Netto, Cristina; Burin, Maira; Jardim, Laura; Tsao, Marilyn; Pereira, Fernanda; Matte, Ursula; Giugliani, Roberto; Barros, Elvino; Porsch, Daiana; Milani, Vagner; Rossato, Liana; Nunes, Ane.
Rev. HCPA & Fac. Med. Univ. Fed. Rio Gd. do Sul
; 26(3): 111-114, 2006.
Artículo
en Inglés
| LILACS | ID: lil-691663
Fabry disease (FD) is an X-linked inborn error of glycosphingolipid metabolism due to thedeficiency of α-galactosidase A. The progressive accumulation of globotriaosylceramide (Gb3),particularly in the vascular endothelium, leads to renal, cardiac, and cerebrovascularmanifestations and early death. Clinical manifestations include the onset of pain and paresthesiasin extremities, angiokeratoma and hypohidrosis during childhood or adolescence. Proteinuriaand lymphedema occur with increasing age. Severe renal impairment leads to hypertension anduremia. Death usually occurs due to renal failure or cardiac or cerebrovascular disease. Diseasepresentation may be subtle, and its signs and symptoms are often discounted as malingering orare mistakenly attributed to other disorders, such as rheumatic fever, neurosis, multiple sclerosis,lupus, or petechiae.We present a 46-year-old man who since adolescence has suffered from painfulacroparesthesia, disseminated skin angiokeratomas, hypohidrosis and heat intolerance. He wassubmitted to a thorough investigation with different specialists, but never reached a diagnosis.He started hemodialysis 3 years ago and at the moment is in standby for kidney transplantation.He was enrolled in a Brazilian FD screening and a reduced serum activity of α-galactosidase A(0.0027 nmol/h/mL reference value 4-22) confirmed the diagnosis of FD.He has angiokeratoma at the bottom area, his echocardiogram demonstrated left ventricularhypertrophy and the family history is very rich, as the patient has 15 siblings.
Biblioteca responsable:
BR18.1
Documentos relacionados