Familial primary pulmonary hypertension: clinical patterns.
Familial primary pulmonary hypertension: clinical patterns.
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家族性原发性肺动脉高压：临床模式。
DOI：
10.1164/arrd.1984.129.1.194
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发表时间：
1984
期刊：
影响因子：
--
通讯作者：
Newman,JH
中科院分区：
文献类型：
--
作者：
Loyd,JE;Primm,RK;Newman,JH
我们最近确认了一个两代人中有6人死于原发性肺动脉高压的家庭。他们中的几个人没有被诊断出这种疾病，而且这些家庭成员在地理上分开，不知道有家族性疾病。我们假设，在家族病史不完整的情况下，家族性原发性肺动脉高压(FPPH)可能被标记为非家族性。为了更好地确定已知FPPH的临床传播模式，我们调查了尽可能多的先前报告的家系(9/13)，在其中5个家系中发现了8例新病例。综观所有病例，最重要的发现是该基因在某些家族中很少表达，而在不同家族之间的表达频率存在很大差异。遗传方式为常染色体显性遗传，男女比例为2：1。一例男性与男性之间的传播排除了该基因的x-连锁。出现症状后的存活率与报道的非家族性原发性肺动脉高压(PPH)相同。我们得出的结论是，许多明显的非家族性PPH病例实际上可能与FPPH有相同的病因。
We recently identified a family with 6 deaths in 2 generations from primary pulmonary hypertension. The disease was undiagnosed in several of them, and the family members, geographically separated, were unaware that there was a familial disease. We hypothesized that familial primary pulmonary hypertension (FPPH) might be labeled as nonfamilial in situations where the family history was incomplete. In order to better define the clinical patterns of transmission of known FPPH, we surveyed as many of the previously reported families as possible (9 of 13) and found 8 new cases in 5 of these families. Looking at all cases, the most important finding was the infrequent expression of the gene within some families and the widely differing frequency of expression among families. The pattern was autosomal dominant with a 2:1 female-to-male ratio. One instance of male-to-male transmission excluded x-linkage of the gene. Survival after onset of symptoms was the same as that reported for nonfamilial primary pulmonary hypertension (PPH). We conclude that many apparently nonfamilial cases of PPH may actually have the same etiology as in FPPH.