Lumiaho A, Ikäheimo R, Miettinen R, Niemitukia L, Laitinen T, Rantala A, Lampainen E, Laakso M, Hartikainen J
Department of Medicine, Kuopio University Hospital, Finland.
Am J Kidney Dis. 2001 Dec;38(6):1208-16. doi: 10.1053/ajkd.2001.29216.
Patients with autosomal dominant polycystic kidney disease (ADPKD) have an increased occurrence of cardiac valve abnormalities. However, the prevalence of cardiac abnormalities in patients with a uniform genotype of ADPKD has not been previously reported. We performed M-mode and color Doppler echocardiography on 109 patients from 16 families with polycystic kidney disease type 1 (PKD1). Findings were compared with those of 73 unaffected family members and 73 healthy controls. Mitral valve prolapse was found in 26% of patients with PKD1, 14% of unaffected relatives, and 10% of control subjects. The prevalence of hemodynamically significant mitral regurgitation (grade 2 or 3) was 13%, 4%, and 3%, respectively. Prevalences of grade 2 or 3 aortic regurgitation (8%, 4%, and 3%, respectively) and tricuspid regurgitation (4%, 6%, and 7%, respectively) were not significantly different among the three groups. Left ventricular hypertrophy (LVH) was found in 19% of subjects with PKD1, 6% of unaffected relatives, and 4% of control subjects. Systolic blood pressure and severity of renal insufficiency were related to mitral regurgitation and LVH in subjects with PKD1. The prevalence of cardiac valve abnormalities did not differ between unaffected relatives and control subjects. Mitral valve prolapse is a characteristic finding in patients with PKD1. Conversely, mitral regurgitation and LVH are likely to be secondary to elevated blood pressure in these patients.
常染色体显性遗传性多囊肾病（ADPKD）患者心脏瓣膜异常的发生率增加。然而，此前尚未报道过具有统一ADPKD基因型的患者中心脏异常的患病率。我们对来自16个1型多囊肾病（PKD1）家庭的109例患者进行了M型和彩色多普勒超声心动图检查。将结果与73名未患病的家庭成员和73名健康对照者的结果进行比较。PKD1患者中二尖瓣脱垂的发生率为26%，未患病亲属中为14%，对照者中为10%。血流动力学显著的二尖瓣反流（2级或3级）的患病率分别为13%、4%和3%。三组中2级或3级主动脉反流（分别为8%、4%和3%）和三尖瓣反流（分别为4%、6%和7%）的患病率无显著差异。PKD1患者中19%出现左心室肥厚（LVH），未患病亲属中为6%，对照者中为4%。PKD1患者的收缩压和肾功能不全的严重程度与二尖瓣反流和LVH有关。未患病亲属和对照者之间心脏瓣膜异常的患病率无差异。二尖瓣脱垂是PKD1患者的特征性表现。相反，二尖瓣反流和LVH在这些患者中可能继发于血压升高。
