AI Article Synopsis
- Gaucher disease (GD) is a lysosomal storage disorder caused by bi-allelic pathogenic variants, resulting in a wide range of clinical symptoms from mild to severe.
- A family study revealed that all members across two generations exhibited splenomegaly as a common symptom.
- Diagnosis of GD necessitated thorough clinical, biochemical, and genetic evaluations, as it can arise from multiple distinct genotypes.
Article Abstract
Gaucher disease (GD) is a lysosomal storage disorder that is associated with bi-allelic pathogenic variants in . Its wide clinical spectrum, ranging from mild organomegaly to significant skeletal and neurological involvement, is partially explained by genotype-phenotype correlations. We present a family, in which all members over two generations presented with at least splenomegaly. Comprehensive clinical, biochemical and genetic workup was required to diagnose GD, which is caused by as many as four distinct genotypes.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831897 | PMC |
| http://dx.doi.org/10.1016/j.ymgmr.2019.100532 | DOI Listing |
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