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Research advances in diagnosis and therapy of Niemann-Pick disease type C / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics ; (12): 533-538, 2015.
Artículo en Chino | WPRIM | ID: wpr-346111
ABSTRACT
Niemann-Pick disease type C (NPC) is an autosomal recessive lysosomal lipid storage disease associated with impaired intracellular cholesterol trafficking. A wide spectrum of clinical phenotype has been described, with a possible onset at all ages of life from the neonatal period to adulthood, more often in childhood. Typically, hepatosplenomegaly, dystaxia, dysphagia, dysarthria and dementia are presented in NPC patients. Neurologic symptoms vary according to the onset age, but prolonged neonatal cholestasis, splenomegaly, cataplexy and vertical supranuclear gaze palsy are more specific signs to the diagnosis of the disease. Impaired cholesterol trafficking and unesterified cholesterol accumulation in the late endosomes and lysosomals, as a results of mutations in NPC1 or NPC2 genes, are initial for the disease, and defective cellular autophagy, defective lysosomal calcium homeostasis and oxidative stress may all play roles in the physiological processes. The definite diagnosis requires demonstration of unesterified cholesterol accumulated in fibroblasts cultured from skin biopsies or of pathogenic mutation of NPC1/NPC2 genes. Miglustat, the only available treatment approved to date, can alleviate neurological symptoms and slow disease progression when administered earlier.
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Terapéutica / Diagnóstico / Diagnóstico Diferencial / Enfermedad de Niemann-Pick Tipo C / Genética Tipo de estudio: Estudio diagnóstico Límite: Humanos Idioma: Chino Revista: Chinese Journal of Contemporary Pediatrics Año: 2015 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Terapéutica / Diagnóstico / Diagnóstico Diferencial / Enfermedad de Niemann-Pick Tipo C / Genética Tipo de estudio: Estudio diagnóstico Límite: Humanos Idioma: Chino Revista: Chinese Journal of Contemporary Pediatrics Año: 2015 Tipo del documento: Artículo