Artigo

X-linked adrenoleukodystrophy: clinical course and minimal incidence in South Brazil

LEONARDO MODESTI VEDOLIN, LAURA BANNACH JARDIM, ANDREW CHAVES FEITOSA DA SILVA, DEBORAH BLANK, MARIA MERCEDES VILLANUEVA A, , MARIANA LA BELLA COSTA, MARION DEON, CLÁUDIO GALVÃO DE CASTRO JR., LAURO GREGIANIN, ROBERTO GIUGLIANI, LUISA RENCK, CARMEN REGLA VARGAS, DANIEL LA M. COELHO, CARMEM BONFIM

Brain & Development, v. 32, n. 0, p. 180-190, 2010.

Motivo: Produção Corpo Clínico

Setor HMV: IG Centro de Diagnostico, UDI - Gerência

Área da saúde: Radiologia e Diagnóstico por Imagem

Resumo: X-linked adenoleukodystrophy is a genetic disease that affects the degradation of very long-chain fatty acids. In male patients, common pictures are the cerebral form (CALD), myeloneuropathy (AMN), and Addison-only. Objective: To describe the clinical course of affected male patients from South Brazil between 1993 and 2007. Methods: Affected male patients and their maternal lineages were studied from a clinical, neurological and biochemical standpoint. Results: Eighty-three male patients from 30 families were biochemically evaluated: 51 were affected. 27/51 (54%) presented the cerebral form; 11/51 had AMN (22%); 5 had Addison- only (10%), and 8 (16%) were asymptomatic. Between 2002 and 2006, the minimal incidence was 1:35,000 males in our State (South Brazil). Forty-three affected individuals were followed for 5.4 ± 3.7 years. Of 10 boys detected at early stages, three developed CALD. These three boys and another five CALD at baseline were referred to hematopoietic stem cell transplantation. Seven transplants were carried out, 5 with good clinical evolution after 2.2 years post-transplant. The non-transplanted case was later defined as a stable cerebral form. Discussion: Among the present families, the observed cases were comparable to the 50% expected by Mendelian segregation. Based on the natural history, the number of cases that developed CALD was similar to the expected. Transplants were successful in 70% of cases. The occurrence of a stable cerebral form pointed to an urgent need for better markers of active cerebral disease.

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