Characterization of liver disease in a cohort of individuals with Niemann-Pick Disease, Type C1.

ABSTRACT:

Purpose

Niemann-Pick Disease, Type C1 (NPC1) is a neurodegenerative lysosomal disease in which the first manifestation is often cholestatic liver disease at birth. The neurodegenerative symptoms typically manifest later. The aim of this study was to see if the presence and severity of liver disease at birth predicted whether a participant would develop liver disease later and if there was any correlation with the age of onset of neurological symptoms.

Methods

Liver disease was characterized in 93 individuals with NPC1 using FibroScan, abdominal ultrasound, and plasma liver function tests at baseline and longitudinally over up to a four-year period. This information was correlated with the presence or absence of liver disease noted at birth.

Results

Higher liver stiffn

SUBMITTER: Agrawal N 

PROVIDER: S-EPMC12818573 | biostudies-literature | 2026 Mar

REPOSITORIES: biostudies-literature