Kenet G, Hayek S, Mor M, Lubetsky A, Miller L, Rosenberg N, Mosheiff R, Itzchaki M, Elstein D, Wientroub S, Zimran A
National Hemophilia Center and Institute of Thrombosis and Hemostasis, Sheba Medical Center, Tel-Hashomer, Israel.
Blood Cells Mol Dis. 2003 Jul-Aug;31(1):72-4. doi: 10.1016/s1079-9796(03)00121-9.
Legg-Calve-Perthes disease (LCPD) is an avascular necrosis of the femoral head with an annual incidence of 5-15/100,000. The estimated incidence of Gaucher disease, a lysosomal recessive storage disease, is 1:850, with a carrier rate of 1:17.5 for the 1226G (N370S) mutation among Ashkenazi Jews in whom there is a predilection. Since clinical and radiological findings of avascular hip necrosis due to either Gaucher disease or LCPD may be indistinguishable, misdiagnosis may occur. The purpose of this study was to evaluate the incidence of 1226G Gaucher mutation in a cohort of radiologically confirmed LCPD patients (diagnosed 1986-2000) in Israel. Enzyme assay was performed for confirmation of affected versus carrier status in patients with the 1226G mutation. In all, 78 LCPD patients, 86% males, 51% with severe bone disease, were studied. Family history was negative for Gaucher disease. Ethnic origin was 39% Ashkenazi Jewish, 6% Arab, and 55% other ethnicities. One Ashkenazi Jewish LCPD patient was homozygous for the 1226G mutation, and 4 LCPD patients were carriers: 3 Ashkenazi Jewish and 1 Arab patient. The frequency of the 1226G mutation among the LCPD patients was increased relative to historical Ashkenazi Jewish Israeli controls (P = 0.01). Since Gaucher disease may be misdiagnosed as LCPD, glucocerebrosidase enzyme testing is recommended among Ashkenazi Jewish children diagnosed with LCPD.
Legg-Calve-Perthes病（LCPD）是一种股骨头缺血性坏死，年发病率为5-15/10万。戈谢病是一种溶酶体隐性贮积病，估计发病率为1:850，在有发病倾向的阿什肯纳兹犹太人中，1226G（N370S）突变的携带率为1:17.5。由于戈谢病或LCPD导致的缺血性髋关节坏死的临床和放射学表现可能难以区分，可能会发生误诊。本研究的目的是评估以色列一组经放射学确诊的LCPD患者（1986-2000年诊断）中1226G戈谢突变的发生率。对有1226G突变的患者进行酶测定以确认其患病与携带状态。总共研究了78例LCPD患者，其中86%为男性，51%患有严重骨病。家族史中无戈谢病。种族来源为39%阿什肯纳兹犹太人、6%阿拉伯人以及55%其他种族。1例阿什肯纳兹犹太LCPD患者为1226G突变纯合子，4例LCPD患者为携带者：3例阿什肯纳兹犹太患者和1例阿拉伯患者。LCPD患者中1226G突变的频率相对于历史阿什肯纳兹犹太以色列对照有所增加（P = 0.01）。由于戈谢病可能被误诊为LCPD，建议对诊断为LCPD的阿什肯纳兹犹太儿童进行葡萄糖脑苷脂酶检测。
