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Clinical Characteristics and GBA Gene Mutation Analysis of Gaucher Disease Type I by Xiaofang Zhang, Yiping Wu, Lihua Wang, Qiong Wu, Qian Liu, Ruimin Li

Background: The aim was to investigate the clinical characteristics and GBA gene mutation analysis of Gaucher disease type I in children.
Methods: The clinical manifestations, GBA gene mutations, and review related literature of 3 children with Gaucher disease type I were retrospectively analyzed.
Results: Case 1: Clinical manifestations include epistaxis, pancytopenia, hepatosplenomegaly, and lymphadenopathy. Glucocerebrosidase 0.38 µmol/L/hour, c.1226A>G; p. N370S (heterozygous) mutation. Case 2: Clinical manifestations include abdominal enlargement, hemoglobin and thrombocytopenia, hepatosplenomegaly, lymph nodes were not palpable. Glucocerebrosidase 0.48 mol/L/hour, c.1246G>A; p. Gly416Ser (heterozygous) mutation and c.115 + 1G>A; p.? (heterozygous) mutation. Case 3: Clinical manifestations include anemia, pancytopenia, he-patosplenomegaly, and lymph nodes were not palpable. Glucocerebrosidase 0.41 mol/L/hour, c.1240g>C; p. Val414Leu (heterozygous) mutation and c.475C>T; p. Arg159Trp (heterozygous) mutation.
Conclusions: The main clinical features of type I Gaucher disease are hepatosplenomegaly, anemia, and thrombocytopenia. Some patients also have reduced white blood cells. Enzyme activity detection is the gold standard for the diagnosis of Gaucher disease. The correlation between Gaucher disease genotype and clinical phenotype is complex. Gene mutations can affect enzyme activity and stability. The higher the degree of enzyme activity decline, the more severe the clinical phenotype.

DOI: 10.7754/Clin.Lab.2022.220816