Kalinin A P, Andrusenko A B, Novikov A V, Bogatyrev O P, Donskov S I, Borisova M G, Kriukov V F, Riazanova L A, Manichkin V N
Ter Arkh. 1993;65(4):78-83.
107 patients with Itsenko-Cushing disease were examined for heredity: family history was analyzed in 75 cases, dermatoglyphics was assessed in 44 cases, I- and II-class HLA antigens were studied in 68 cases. The patients were found to have hereditary loading both by Itsenko-Cushing and other diseases (hypertension, atherosclerosis, autoimmune disorders). Clinico-genealogical evaluation made it possible to identify forms of the disease which are inherited autosome-recessively and autosome-dominantly. However, in the majority of patients the disease onset had multifactorial nature, as there were HLA-antigen associations by DR4, DR5, DR7, DRw53, DQw3. Pilot experience with genetic study of the disease showed its genetic determination in some forms, its association with hypertension and atherosclerosis, approaches to prevention, prognosis, classification. Practical recommendations on detailed family history collection in patients with Itsenko-Cushing disease have been developed.
对107例库欣病患者进行了遗传检查：分析了75例患者的家族史，评估了44例患者的皮纹，研究了68例患者的I类和II类HLA抗原。发现这些患者不仅有库欣病的遗传倾向，还有其他疾病（高血压、动脉粥样硬化、自身免疫性疾病）的遗传倾向。临床系谱评估有助于识别常染色体隐性和常染色体显性遗传的疾病形式。然而，在大多数患者中，疾病的发病具有多因素性质，因为存在DR4、DR5、DR7、DRw53、DQw3等HLA抗原关联。对该疾病的基因研究的初步经验表明了其在某些形式中的基因决定性、与高血压和动脉粥样硬化的关联、预防方法、预后和分类。已制定了关于库欣病患者详细家族史收集的实用建议。
