Hattenbach L O, Toka H R, Toka O, Schuster H, Luft F C
Department of Ophthalmology, Johann Wolfgang Goethe University Hospital, Frankfurt am Main, Germany.
Br J Ophthalmol. 1998 Dec;82(12):1363-5. doi: 10.1136/bjo.82.12.1363.
A 60 member Turkish kindred with autosomal dominant hypertension, which cosegregates completely with brachydactyly and short stature, was studied. Affected people have severe hypertension and generally die of stroke by the age of 50. The hypertension closely resembles essential hypertension and, accordingly, the mechanisms of blood pressure elevation are unknown. The gene responsible was mapped to chromosome 12p.
All 29 affected family members underwent a basic physical examination and funduscopy. Other than markedly elevated blood pressures and the residua of stroke in a few subjects, the apparent lack of end organ damage was striking, including the normal appearing fundi. Five affected individuals were studied in a clinical research unit study. All underwent a complete ophthalmological examination. Fluorescein angiograms were obtained in three subjects.
Systolic blood pressures ranged from 170 to 250 mm Hg, while diastolic blood pressures ranged from 100 to 150 mm Hg in affected individuals. In all affected subjects, the fundi were only minimally altered or clinically normal. All three fluorescein angiograms were normal. Despite severe hypertension since childhood the patients showed no signs of hypertensive retinopathy.
The absence of hypertensive retinopathy in this novel form of inherited hypertension is due to an altered structure of retinal arteriolar walls or some other protective mechanism. Since evidence of end organ damage is scarce in other organs as well, the protective mechanism appears to be generalised.
对一个有60名成员的土耳其家族进行了研究，该家族患有常染色体显性高血压，且高血压与短指畸形和身材矮小完全共分离。患病者患有严重高血压，通常在50岁前死于中风。这种高血压与原发性高血压极为相似，因此，血压升高的机制尚不清楚。致病基因被定位到12号染色体短臂。
所有29名患病家庭成员均接受了基本体格检查和眼底检查。除少数受试者血压明显升高和有中风后遗症外，明显缺乏终末器官损害，包括眼底外观正常，这一点令人瞩目。对5名患病个体进行了临床研究单元研究。所有人都接受了全面的眼科检查。3名受试者进行了荧光素血管造影。
患病个体的收缩压范围为170至250毫米汞柱，舒张压范围为100至150毫米汞柱。在所有患病受试者中，眼底仅有轻微改变或临床正常。所有3次荧光素血管造影均正常。尽管自童年起就患有严重高血压，但患者没有显示出高血压视网膜病变的迹象。
这种新型遗传性高血压不存在高血压视网膜病变是由于视网膜小动脉壁结构改变或其他某种保护机制所致。由于其他器官中终末器官损害的证据也很少，这种保护机制似乎是全身性的。
