Peterson H R, Bowlds C F, Yam L T
Cancer. 1984 Sep 1;54(5):932-8. doi: 10.1002/1097-0142(19840901)54:5<932::aid-cncr2820540531>3.0.co;2-o.
DiGuglielmo syndrome is usually considered an idiopathic disorder occurring sporadically. A family in which DiGuglielmo syndrome occurred in 4 of 11 siblings is reported. A fifth sibling has developed unexplained marrow hypoplasia. Serial morphologic and cytochemical studies, supplemented by cytogenetic studies, documented the evolution of disease. Cytogenetic and environmental investigations did not explain this clustering of blood dyscrasias although a genetic predisposition to marrow damage by environmental factors cannot be excluded. The natural history of the disease in this sibship may consist of initial reactive changes in the marrow with subsequent progression to myelodysplasia with sideroblastosis and, finally, to DiGuglielmo syndrome.
迪古列尔莫综合征通常被认为是一种散发性的特发性疾病。本文报道了一个家庭，该家庭11个兄弟姐妹中有4人患有迪古列尔莫综合征。第五个兄弟姐妹出现了原因不明的骨髓发育不全。通过连续的形态学和细胞化学研究，并辅以细胞遗传学研究，记录了疾病的演变过程。细胞遗传学和环境调查未能解释这种血液系统疾病的聚集现象，尽管不能排除环境因素导致骨髓损伤的遗传易感性。这个家族中该疾病的自然史可能包括骨髓的初始反应性变化，随后发展为伴有环形铁粒幼细胞的骨髓发育异常，最终发展为迪古列尔莫综合征。
