Fabry disease: clinical and genotypic aspects of three cases in first degree relatives
An. bras. dermatol
; 89(1): 141-143, Jan-Feb/2014. graf
Article
ي En
| LILACS
| ID: lil-703546
المكتبة المسؤولة:
BR1.1
ABSTRACT
Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with renal, cardiovascular and/or cerebral complications that reduce life expectancy. Angiokeratomas are asymptomatic lesions present as the initial manifestation and usually less appreciated. Their detection is important for early diagnosis and institution of treatment with enzyme replacement therapy, which prevents late complications reducing morbidity and mortality. We report a case of a male teenager with acroparestesias and angiokeratomas. Family medical research discovered that his mother and brother had similar signs and symptoms and that the three patients had the same mutation in the gene encoding the enzyme, confirming the diagnosis.
Key words
النص الكامل:
1
الفهرس:
LILACS
الموضوع الرئيسي:
Skin Neoplasms
/
Fabry Disease
/
Angiokeratoma
نوع الدراسة:
Diagnostic_studies
/
Screening_studies
المحددات:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
اللغة:
En
مجلة:
An. bras. dermatol
موضوع المجلة:
DERMATOLOGIA
السنة:
2014
نوع:
Article