Gaucher disease (GD) is a lysosomal storage disorder that is associated with bi-allelic pathogenic variants in GBA. 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 GBA genotypes.

中文翻译：

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综合临床、生化和遗传筛查揭示了四种不同的 GBA 基因型是单个家族中戈谢病的潜在可变表现。

戈谢病 (GD) 是一种溶酶体贮积症，与GBA中的双等位基因致病变异相关。其广泛的临床谱，从轻度器官肿大到显着的骨骼和神经系统受累，部分可以通过基因型-表型相关性来解释。我们提出了一个家庭，其中两代以上的所有成员都至少出现脾肿大。诊断 GD 需要进行全面的临床、生化和基因检查，GD 是由多达四种不同的GBA基因型引起的。