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

作者：Jardim Laura Bannach^*; Feitosa da Silva Andrew Chaves; Blank Deborah; Villanueva Maria Mercedes; Renck Luisa; Costa Mariana La Bella; Vargas Carmen Regla; Deon Marion; Coelho Daniel la M; Vedolin Leonardo; de Castro Claudio Galvao Jr; Gregianin Lauro; Bonfim Carmem; Giugliani Roberto

来源：Brain & Development, 2010, 32(3): 180-190.

DOI：10.1016/j.braindev.2009.02.002

• X-linked adrenoleukodystrophy
• ALD
• Minimal incidence
• Hematopoietic stem cell transplantation
• Stable cerebral form

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; 11151 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 all Urgent need for better markers of active cerebral disease.

• 出版日期2010-3