Abstract

AMARTINO, Hernán et al. Argentinean Consensus on the Diagnosis and Treatment of Niemann-Pick Disease type C. Medicina (B. Aires) [online]. 2023, vol.83, n.4, pp.588-602. ISSN 0025-7680.

Niemann-Pick type C (NPC) is a disorder of the lyso somal metabolism due to biallelic pathogenic variants in NPC1 or NPC2. Intracellular deposit of lipids, mainly unesterified cholesterol, gives rise to oxidative damage in several tissues, mainly neurons, spleen and liver. This, in turn, is associated with a myriad of neurologi cal/psychiatric and visceral symptoms, with wide vari ability in age of presentation, from prenatal/neonatal to adult-onset forms of the disease. The last few years have seen considerable progress in understanding this disease and its management. In this consensus, current approaches to the diagnosis, follow-up and treatment of NPC (including the use of miglustat, the only specific drug approved at the time) are discussed by an Argentin ian panel of experts.

Keywords : Niemann-Pick disease Type C; Miglustat.