Kaur M, Kabra M, Kher A, Naik G, Bharucha B A, Verma I C
Department of Pediatrics, WHO Collaborating Center in Genetics, All India Institute of Medical Sciences, New Delhi.
Indian Pediatr. 1996 Sep;33(9):735-8.
To study the clinical and biochemical spectrum of Gaucher disease.
Assay of beta glucosidase enzyme in leucocytes in patients with splenomegaly, and in chorionic villi for prenatal diagnosis.
Hospital-based.
Of 13 cases of Gaucher disease, aged 1-6 years, 9 were identified at Delhi and 4 at Bombay.
The enzyme beta-glucosidase was 0.65 nmol/h/mg of protein or less in all the cases in Delhi, and 2.5 nmol/h/mg of protein or less in Bombay. All cases except one belonged to type 1 (hepatosplenomegaly), while one case was of type 2 (neuronopathic). Prenatal diagnosis was carried out in one family and the fetus was found to be affected.
In children with hepatosplenomegaly and increased acid phosphatase, assay of beta-glucosidase enzyme confirms the diagnosis of Gaucher disease. Diagnosis of the disease is important because enzyme replacement therapy is available and prenatal diagnosis is possible.
研究戈谢病的临床和生化特征。
对脾肿大患者的白细胞以及用于产前诊断的绒毛膜绒毛中的β-葡萄糖苷酶进行检测。
以医院为基础。
13例戈谢病患者，年龄1至6岁，其中9例在德里确诊，4例在孟买确诊。
德里所有病例中β-葡萄糖苷酶为0.65纳摩尔/小时/毫克蛋白质或更低，孟买为2.5纳摩尔/小时/毫克蛋白质或更低。除1例属于2型（神经病变型）外，所有病例均为1型（肝脾肿大）。对一个家庭进行了产前诊断，发现胎儿患病。
对于肝脾肿大且酸性磷酸酶升高的儿童，检测β-葡萄糖苷酶可确诊戈谢病。该病的诊断很重要，因为有酶替代疗法且可进行产前诊断。
