Clinical and epidemiologic studies of familial hemophagocytic lymphohistiocytosis in Japan. Japan LCH Study Group.
Clinical and epidemiologic studies of familial hemophagocytic lymphohistiocytosis in Japan. Japan LCH Study Group.
复制标题
日本家族性噬血细胞性淋巴组织细胞增多症的临床和流行病学研究。
DOI：
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发表时间：
1998
期刊：
影响因子：
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通讯作者：
Sumio Miyazaki
中科院分区：
文献类型：
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作者：
E. Ishii;Shouichi Ohga;Masako Tanimura;S. Imashuku;M. Sako;Shuki Mizutani;Sumio Miyazaki
背景和程序
家族性噬血细胞性淋巴组织细胞增生症（FHL）的病因尚不清楚，其特征为发热、肝脾肿大、全血细胞减少和凝血功能障碍。我们分析了43例FHL患者，所有受影响的兄弟姐妹，在18个家庭谁被确定在1986年至1995年期间在日本。
结果
有两个家庭（11%）存在明显的血缘关系。大多数家庭生活在日本西部，那里近亲结婚的频率很高。FHL的发病率在西部岛屿九州明显高于其他地区。用温伯格先证者法计算的家系分离比为0.35，表明该病为常染色体隐性遗传。由于FHL患者没有受影响的兄弟姐妹（散发病例）的诊断是相当困难的，我们计算了散发病例的可能数量;在日本同期，大约122例患者可被确定为散发FHL病例。大多数临床和实验室检查结果与其他类型的淋巴组织细胞增多症没有区别。然而，在诊断时，在一半的患者外周血中观察到非典型淋巴细胞与嗜天青颗粒，这表明该参数对早期诊断的临床重要性。尽管进行了强化治疗，FHL的预后极差，但8例存活患者中有4例接受了骨髓移植（BMT），表明BMT对这种疾病的有效性。
结论
FHL在近亲婚配高发地区的分布及分离分析表明FHL存在遗传因素。FHL基因的鉴定有望有助于治愈这种疾病，也可能使FHL携带者检测和BMT供体选择成为可能。
BACKGROUND AND PROCEDURE
The etiology of familial hemophagocytic lymphohistiocytosis (FHL), which is characterized by fever, hepatosplenomegaly, pancytopenia, and coagulopathy, remains unknown. We analyzed 43 FHL patients, all with affected siblings, in 18 families who were identified during the period 1986-1995 in Japan.
RESULTS
The presence of consanguinity was evident in two families (11%). The majority of families lived in western Japan, where the frequency of consanguineous marriage is high. The incidence of FHL was significantly higher in the western island, Kyushu, than in other areas. The segregation ratio calculated for these families was 0.35 by the Weinberg proband method, showing the autosomal-recessive inheritance of the disease. Since the diagnosis of an FHL patient without affected siblings (sporadic case) is quite difficult, we calculated the possible number of sporadic cases; approximately 122 patients could be identified as sporadic FHL cases during the same period in Japan. Most of the clinical and laboratory findings were not distinguishable from those of other types of lymphohistiocytosis. However, atypical lymphoid cells with azurophilic granules in peripheral blood were observed in half of the patients at diagnosis, suggesting the clinical importance of this parameter for early diagnosis. Despite intensive therapy, the prognosis of FHL was extremely poor; but 4 of the 8 patients who have survived had received bone marrow transplantation (BMT), indicating the effectiveness of BMT for this disorder.
CONCLUSIONS
The distribution of FHL in areas of highly frequent consanguineous marriage and the segregation analysis indicated a genetic factor in FHL. The identification of the genes for FHL is expected to contribute to a cure for this disorder, and might also enable FHL carrier detection and donor selection for BMT.