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首页> 外文期刊>Molecular Genetics and Metabolism Reports >Genetic and clinical characteristics of Filipino patients with Gaucher disease
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Genetic and clinical characteristics of Filipino patients with Gaucher disease

机译：菲律宾戈谢病患者的遗传和临床特征

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Gaucher disease (GD) is a lysosomal storage disorder caused by the deficiency of the β-glucocerebrosidase enzyme due to disease causing mutations in the GBA1 (glucosidase beta acid) gene, leading to the abnormal accumulation of the lipid glucocerebroside in lysosomal macrophages. This is a review of the clinical features and molecular profiles of 14 Filipino patients with GD. Five patients presented with type 1 disease, two had type 2 GD and seven had type 3 GD. The age of onset for all types was between 1 and 2?years of age but there was a delay of 2.2?years from the time of symptom onset to confirmation of diagnosis. Hepatosplenomegaly, anemia and thrombocytopenia were present in most of the patients. Stunting was seen in 64.3% and bone abnormalities were present in 63.6%. The most common mutant allele detected in this cohort was L483P (previously L444P), followed by F252I, P358A and G241R. IVS2+1 G>A, N409S and G416S mutations were reported singularly. There were 3 patients who were found to have N131S mutations and one patient with D257V mutation, mutant alleles that have only been reported among the Filipinos to date. Except for N409S, the mutations found in this cohort were generally severe and were congruent with the severe phenotypes found in most patients. Of the 14 patients, only 6 were able to undergo enzyme replacement therapy which significantly improved the hematologic parameters and decreased the sizes of the liver and spleen but did not consistently improve the growth and skeletal abnormalities nor alleviate the neurological manifestations of our patients with GD. Improved monitoring through recommended modalities for assessments and tools for evaluation should be implemented in order to fully appreciate the severity of the disease and accuracy of the response to treatment.
机译：Gaucher病（GD）是一种溶酶体贮积病，是由疾病引起的GBA1（葡萄糖苷酶β酸）基因突变导致β-葡萄糖脑苷脂酶缺乏，导致脂质葡萄糖脑苷脂在溶酶体巨噬细胞中异常蓄积。这是对14名菲律宾GD患者的临床特征和分子谱的综述。 5名1型疾病患者，2名2型GD，7名3型GD。所有类型的发病年龄都在1至2岁之间，但从症状发作到确诊之间存在2.2年来的延迟。大多数患者存在肝脾肿大，贫血和血小板减少。发育迟缓的发生率为64.3％，骨骼异常的发生率为63.6％。在该队列中检测到的最常见突变等位基因为L483P（以前为L444P），其次是F252I，P358A和G241R。 IVS2 + 1 G> A，N409S和G416S突变单独报告。迄今为止，只有3名患者被发现具有N131S突变，而一名患者则具有D257V突变，这些突变等位基因仅在菲律宾人中报告过。除N409S外，在该队列中发现的突变通常很严重，并且与大多数患者中发现的严重表型一致。在这14例患者中，只有6例能够接受酶替代疗法，从而显着改善了血液学参数并减小了肝脏和脾脏的大小，但并不能持续改善我们的GD患者的生长和骨骼异常，也没有减轻其神经系统表现。为了充分认识到疾病的严重程度和对治疗反应的准确性，应通过建议的评估方式和评估工具来实施改进的监测。

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