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. 2023;83(4):588-602.

[Argentinean Consensus on the Diagnosis and Treatment of Niemann- Pick Disease Type C]

[Article in Spanish]
Hernán Amartino  1 , Carolina Azcona  2   3 , Cristian Calandra  4 , Consuelo Durand  5 , Sebastián Fortini  6 , Marcelo Kauffman  3   7 , Mariana Loos  8 , Clarisa Maxit  9 , Sebastián Menazzi  10 , Norma Spécola  11 , Marina Szlago  12
Affiliations
  • PMID: 37582133
Free article

[Argentinean Consensus on the Diagnosis and Treatment of Niemann- Pick Disease Type C]

[Article in Spanish]
Hernán Amartino et al. Medicina (B Aires). 2023.
Free article

Abstract
in English, Spanish

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.

La enfermedad de Niemann-Pick tipo C (NPC) es un trastorno del metabolismo lisosomal que se debe a la presencia de variantes patogénicas bialélicas en los genes NPC1 o NPC2. El depósito intracelular de lípidos, especialmente colesterol no esterificado, provoca daño oxidativo en diversos tejidos, especialmente neuronas, bazo e hígado. Esto, a su vez, induce la aparición de un conjunto de síntomas neurológicos / psiquiátricos y viscerales, con una amplia variabilidad de edad de aparición, desde formas prenatales / neonatales hasta otras de aparición en la vida adulta. En los últimos años ha habido avances considerables en la comprensión sobre esta enfermedad y su manejo. En el presente consenso un grupo de expertos argentinos abordan los enfoques actuales de diagnóstico, seguimiento y tratamiento de NPC, incluyendo el uso de miglustat como única terapia específica aprobada en la actualidad.

Keywords: Niemann-Pick disease Type C; miglustat.

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