Gilbert E F, ZuRhein G M, Wester S M, Herrmann J, Hong R, Opitz J M
Pediatr Pathol. 1985;3(1):59-92. doi: 10.3109/15513818509068838.
Four cases of familial hemophagocytic lymphohistiocytosis (FHL) from two families with first cousins affected in family and siblings in another are presented. The pathological findings, including neuropathology, transmission (TEM), and scanning electron microscopy (SEM), are discussed. This is the first study of this condition to include TEM and SEM. One hundred and fifty-nine cases from the literature, including the author's four cases, are reviewed. The familial occurrence in 116 instances in sibships and consanguinity in 13 of the 73 families support autosomal-recessive inheritance. In five families there were affected first cousins--an observation not readily explained by autosomal-recessive transmission. We suggest that the genetic aspects of FHL be more fully explored and that in future cases parents and other relatives be included in the hematologic, immunologic, and genetic evaluation.
本文报告了来自两个家族的4例家族性噬血细胞性淋巴组织细胞增生症（FHL）病例，其中一个家族是近亲结婚，另一个家族是兄弟姐妹患病。文中讨论了包括神经病理学、透射电镜（TEM）和扫描电镜（SEM）在内的病理检查结果。这是首次对该病进行的包含TEM和SEM的研究。作者回顾了文献中的159例病例，包括自己的4例。在116例同胞发病和73个家族中的13个家族存在血缘关系，支持常染色体隐性遗传。有5个家族的表亲患病，这一现象难以用常染色体隐性遗传来解释。我们建议对FHL的遗传学方面进行更全面的研究，在未来的病例中，应对患者的父母和其他亲属进行血液学、免疫学和遗传学评估。
