Mikhaylov T
J Genet Hum. 1975 Jun;23(2):111-22.
The author has carried out a clinical and genetic investigation of a large family who lives in the south of the Algerian Sahara and comprises 213 individuals belonging to 8 generations. Among the examined members of this family, 105 (49.2%) showed repeated nose bleeding. However, no anomalies of the blood or the coagulation could be found in these patients. From the physical point of view they were all normally developed and vigorous. The distribution of the patients according to age showed no pedilection for any age group (affected individuals between 7 months and 85 years). The condition affected both sexes with a slight predominance in favour of females (53.4% of women against 46.6% of men). The inheritance is autosomal dominant wigh sometimes skipping of one or several generations. In one sibship all 13 members were affected owing to the fact that the father was an affected homozygote, offspring of a marriage between two affected cousins. The author proposes for this new noslological and genetic entity the term hereditary recurrent epistaxis. This capillaropathy has to be distinguished in particular from hereditary hemorrhagic telangiectasia of Rendu-Osler.
作者对一个居住在阿尔及利亚撒哈拉沙漠南部的大家庭进行了临床和基因调查，该家庭由8代人组成，共213人。在这个家庭接受检查的成员中，105人（49.2%）有反复鼻出血的症状。然而，在这些患者中未发现血液或凝血方面的异常。从身体状况来看，他们发育正常且精力充沛。患者按年龄分布，未显示出对任何年龄组的偏好（受影响个体年龄在7个月至85岁之间）。这种情况在两性中均有发生，女性略占优势（女性占53.4%，男性占46.6%）。遗传方式为常染色体显性遗传，有时会隔代遗传。在一个同胞组中，所有13名成员都受到影响，原因是父亲是受影响的纯合子，是两个患病表亲结婚的后代。作者为这个新的疾病分类学和遗传学实体提出了“遗传性复发性鼻出血”这一术语。这种毛细血管病尤其要与朗杜-奥斯勒遗传性出血性毛细血管扩张症区分开来。
