Danes B S, Beck B, Flensborg E W
Clin Genet. 1978 Apr;13(4):327-34. doi: 10.1111/j.1399-0004.1978.tb01188.x.
The cystic fibrosis (CF) culture phenotype of dermal fibroblasts (metachromasia, metabolic cooperation) of a group of 131 Danish CF patients and their families were studied to determine the distribution of the two CF culture classes and their prognostic significance. Of these, 62.6% (82) were Class I, 31.3% (41) Class II and 61.1% (8) were proposed to be genetic compounds. The occurrence of Class II was twice that found in a group of patients from New York (13%) and Minnesota (18%). The prognosis for Class II CF patients was considered to be poorer as: (1) The initial diagnosis was made earlier in Class II than in Class I or the compounds (63% of Class II were diagnosed in the first year of life, as compared to 35% in Class I and 13% of the compounds). (2) Only 5% of the Class II patients survived over the age of 15 years, both being deceased at the end of the study in 1976, whereas 24% of Class I and 63% of the compounds were over 15 years at the end of the study. This research added further evidence for genetic heterogeneity within the clinical syndrome, cystic fibrosis.
对131名丹麦囊性纤维化（CF）患者及其家族的皮肤成纤维细胞的CF培养表型（异染性、代谢协同作用）进行了研究，以确定两种CF培养类型的分布及其预后意义。其中，62.6%（82例）为I类，31.3%（41例）为II类，61.1%（8例）被认为是基因复合类型。II类的发生率是一组来自纽约（13%）和明尼苏达（18%）患者的两倍。II类CF患者的预后被认为较差，原因如下：（1）II类患者的初始诊断时间早于I类或基因复合类型患者（63%的II类患者在出生后第一年内被诊断，而I类患者为35%，基因复合类型患者为13%）。（2）II类患者中只有5%活到15岁以上，在1976年研究结束时均已死亡，而研究结束时I类患者中有24%、基因复合类型患者中有63%超过15岁。这项研究为临床综合征囊性纤维化内的基因异质性提供了进一步的证据。
