1. [Argentinean Consensus on the Diagnosis and Treatment of Niemann- Pick Disease Type C].
- Author
-
Amartino H, Azcona C, Calandra C, Durand C, Fortini S, Kauffman M, Loos M, Maxit C, Menazzi S, Spécola N, and Szlago M
- Subjects
- Adult, Infant, Newborn, Humans, Consensus, Cholesterol, Niemann-Pick Disease, Type C diagnosis, Niemann-Pick Disease, Type C drug therapy, Niemann-Pick Disease, Type C genetics, Pick Disease of the Brain
- Abstract
Niemann-Pick type C (NPC) is a disorder of the lysosomal 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 neurological / psychiatric and visceral symptoms, with wide variability 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 Argentinian panel of experts.
- Published
- 2023