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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.
Article in Chinese | 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.
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Therapeutics / Diagnosis / Diagnosis, Differential / Niemann-Pick Disease, Type C / Genetics Type of study: Diagnostic study Limits: Humans Language: Chinese Journal: Chinese Journal of Contemporary Pediatrics Year: 2015 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Therapeutics / Diagnosis / Diagnosis, Differential / Niemann-Pick Disease, Type C / Genetics Type of study: Diagnostic study Limits: Humans Language: Chinese Journal: Chinese Journal of Contemporary Pediatrics Year: 2015 Type: Article