Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.

ABSTRACT:

Background

Gaucher disease (GD) is a rare lysosomal storage disorder, characterized by hepatosplenomegaly and pancytopenia, with or without neurologic involvement. The disorder is categorized into three phenotypes: GD type 1 or nonneuronopathic GD; GD type 2 or acute neuronopathic GD; and GD type 3 or chronic neuronopathic GD. The purposes of this study were to describe clinical characteristics of Thai GD in patients diagnosed and/or followed up during 2010-2018 and to perform re-genotyping including analysis of GBA recombinant alleles which had not been investigated in Thai patients before.

Results

There were 27 patients from seven medical centers, enrolled in the study. All the cases had pediatric onset. GD3 (44.5%) was the most common phenotype, followed by GD2 (40.7%) an

SUBMITTER: Phetthong T 

PROVIDER: S-EPMC8686639 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature