组织细胞增多症的家族性发病情况。

Familial occurrence of histiocytosis.

作者信息

Frisell E, Björkstén B, Holmgren G, Angström T

出版信息

Clin Genet. 1977 Mar;11(3):163-70. doi: 10.1111/j.1399-0004.1977.tb01295.x.

DOI:10.1111/j.1399-0004.1977.tb01295.x

Abstract

The clinical and histological findings of four children with lethal histiocytosis are reported. The children belonged to two sibships and originated from a Swedish geographical isolate. Consanguinity between the parents was established for one of the sibships, belonging to a pedigree in which malignant disease occurred in two generations. The observations indicate that the type of histiocytosis investigated is caused by homozygosity for a single recessive gene. The association between histiocytosis and malignancy is discussed.

摘要

报告了4例致死性组织细胞增多症患儿的临床和组织学检查结果。这些患儿分属两个同胞组，来自瑞典的一个地理隔离区。其中一个同胞组的父母存在近亲关系，该同胞组属于一个两代人都出现恶性疾病的家系。这些观察结果表明，所研究的组织细胞增多症类型是由单个隐性基因的纯合性引起的。本文还讨论了组织细胞增多症与恶性肿瘤之间的关联。