Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report.

RATIONALE: Gaucher disease (GD), characterized by glucosylceramide accumulation in the macrophage-monocyte system, is caused by glucosidase b acid (GBA) gene mutations which lead to the deficiency of lysosomal enzyme glucocerebrosidase. The mutation spectrum of GBA in Chinese patients is quite different from those seen in Jewish and non-Jewish Caucasian patients. Thus, it is relatively hard to diagnose GD in Chinese.

PATIENT CONCERNS: A 24-year-old Chinese female with intermittent abdominal distension and progressive decrease in strength but without neurologic symptoms was initially referred for femoral head necrosis on the right feet. Laboratory examinations results indicated panhematopenia. Bone marrow aspiration smear and biopsy specimen found typical "wrinkled" Gaucher cells. Molecular-genetic testing of GBA gene revealed 3 mutations including R159W (c. 475 C > T), V1230G (c. 689T > G), and G241A (c. 721G > A).

DIAGNOSES: On the basis of these findings and clinical manifestations, the final diagnosis of type 1 GD was made.

INTERVENTIONS: Enzyme replacement therapy (ERT) with velaglucerase α was carried out after the diagnosis of type 1 GD.

OUTCOMES: The platelet and hemoglobin levels were restored by ERT.

LESSONS: To our knowledge, this is the first report of GD patient carrying 3 mutations in Chinese. These mutations in GBA in the present case imply a potential pool of patients with GD with this mutation in Chinese.