Department of Nephrology, Section of Preventive Medicine, Albert-Ludwigs-University, Freiburg, Germany.
Int Urol Nephrol. 2012 Dec;44(6):1753-62. doi: 10.1007/s11255-012-0125-0. Epub 2012 Feb 25.
ADPKD is one of the most common inherited disorders, with high risk for end-stage renal disease. Numerous patients, however, have no relatives in whom this disorder is known and are unsure whether they may transmit the disease to their offsprings. The aim of this study was to evaluate whether germline mutation analysis adds substantial information to clinical symptoms for diagnosis of ADPKD in these patients.
Clinical data included renal function and presence of liver or pancreas cysts, heart valve insufficiency, intracranial aneurysms, colonic diverticles, and abdominal hernias. Family history was evaluated regarding ADPKD. Germline mutation screening of the PKD1 and PKD2 genes was performed for intragenic mutations and for large deletions.
A total of 324 adult patients with ADPKD including 30 patients without a family history of ADPKD (sporadic cases) were included. PKD1 mutations were found in 24/30 and PKD2 mutations in 6 patients. Liver cysts were present in 14 patients and intracranial aneurysms in 2 patients. Fourteen patients (45%) had no extrarenal involvement. Compared to the 294 patients with familial ADPKD, the clinical characteristics and the age at the start of dialysis were similar in those with sporadic ADPKD.
The clinical characteristics of patients with sporadic and familial ADPKD are similar, but sporadic ADPKD is often overlooked because of the absence of a family history. Molecular genetic screening for germline mutations in both PKD1 and PKD2 genes is essential for the definitive diagnosis of ADPKD.
常染色体显性多囊肾病（ADPKD）是最常见的遗传性疾病之一，存在发生终末期肾病的高风险。然而，许多患者没有已知的亲属患有这种疾病，也不确定他们是否可能将疾病遗传给他们的后代。本研究旨在评估对这些患者而言，种系突变分析是否为 ADPKD 的诊断提供比临床症状更多的信息。
临床数据包括肾功能以及肝脏或胰腺囊肿、心脏瓣膜功能不全、颅内动脉瘤、结肠憩室和腹部疝的存在。评估家族史中是否存在 ADPKD。对 PKD1 和 PKD2 基因进行种系突变筛查，以检测基因内突变和大片段缺失。
共纳入 324 例 ADPKD 成年患者，其中 30 例（散发病例）无 ADPKD 家族史。在 30 例散发病例中发现了 PKD1 突变 24 例，PKD2 突变 6 例。14 例患者存在肝脏囊肿，2 例患者存在颅内动脉瘤。14 例患者（45%）无肾脏外表现。与 294 例有家族性 ADPKD 的患者相比，散发性 ADPKD 患者的临床特征和开始透析的年龄相似。
散发性和家族性 ADPKD 患者的临床特征相似，但由于缺乏家族史，散发性 ADPKD 常被忽视。对 PKD1 和 PKD2 基因的种系突变进行分子遗传学筛查对于 ADPKD 的明确诊断至关重要。
