Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Mais filtros

Bases de dados
Ano de publicação
Tipo de documento
País de afiliação
Intervalo de ano de publicação
1.
Pediatr Res ; 64(6): 689-94, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18670370

RESUMO

Late Onset Central Hypoventilation Syndrome associated with Hypothalamic Dysfunction (LO-CHS/HD) is a distinct entity among the clinical and genetic heterogeneous group of patients with late onset central hypoventilation. Here we report a series of 13 patients with LO-CHS/HD. Rapid onset obesity is the first symptom of HD followed by hypoventilation with a mean delay of 18 mos. The outcome remains poor for this group of patients and would benefit from early diagnosis to anticipate ventilation and possible metabolic disorders. Tumor predisposition is more frequent than initially suspected and as high as 40% in this series. These tumors of the sympathetic nervous system (TSNS) are usually differentiated and do not significantly worsen the prognosis. We report a familial case with recurrence in siblings. The cause underlying LO-CHS/HD remains poorly understood although recurrence in siblings argues for a monogenic disorder. We ruled out PHOX2B, ASCL1, and NECDIN as disease-causing genes by direct sequencing in our series of patients and discuss possible disease-causing mechanisms.


Assuntos
Doenças Hipotalâmicas/complicações , Doenças Hipotalâmicas/genética , Hipoventilação/etiologia , Hipoventilação/genética , Idade de Início , Animais , Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Criança , Pré-Escolar , Feminino , Proteínas de Homeodomínio/genética , Humanos , Doenças Hipotalâmicas/fisiopatologia , Hipoventilação/fisiopatologia , Lactente , Masculino , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Fatores de Transcrição/genética
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA