Corradi V, Gastaldon F, Virzì G M, de Cal M, Soni S, Chionh C, Cruz D N, Clementi M, Ronco C
Department of Nephrology, Dialysis and Transplantation, San Bortolo Hospital, Vicenza, Italy.
Clin Nephrol. 2009 Oct;72(4):259-67. doi: 10.5414/cnp72259.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disorder, with a prevalence of 1 : 500 to 1 : 1,000. ADPKD is genetically heterogeneous: the genes involved are PKD1 and PKD2. ADPKD occurs worldwide and in all ethnic groups and is an important cause of CKD Stage 5. Prevalence of ADPKD on renal replacement therapy (RRT) in Italy has been reported to be 8.2%. In the dialysis population of Vicenza, a province in Northeastern Italy, it accounts for 13.4%. The study aims to investigate reasons for the high prevalence of ADPKD in our region and to describe the clinical profile and genetics of these patients.
Since April 2007, ADPKD patients have been enrolled. Patients from families not native to Vicenza have been excluded. The diagnosis of ADPKD is defined by ultrasound criteria. Complete clinical details have been recorded, including family history. We have used linkage analysis to identify the gene involved in each family.
We describe the first 100 patients recruited from a total of 42 families. 29 patients were in ESRD at the time of enrollment. Renal stones and hepatic cysts were present in 24% and 40%, respectively. The majority of the ADPKD patients (61%) were diagnosed either incidentally or by screening. Positive family history was recorded in 86 patients. The involved gene was PKD1 in 83.7% and PKD2 in 16.3% of the studied patients. PKD2 patients presented the common haplotype.
It is the first epidemiological study from Northeastern Italy reporting clinical profile and genetic analysis of ADPKD patients. The clinical profile of the patients is similar to previous reports, but there is a high prevalence of ADPKD in our region. The presence of a common haplotype is in accordance with our hypothesis of a founder effect in our province, suggesting that a strong lineage-specific gene is present. If the sequence analysis confirms the same mutation, this might suggest a common ancestral origin and a segregation of a specific mutation.
常染色体显性遗传性多囊肾病（ADPKD）是最常见的遗传性肾脏疾病，患病率为1：500至1：1000。ADPKD具有遗传异质性：相关基因是PKD1和PKD2。ADPKD在全球范围内以及所有种族中均有发生，是终末期肾病（CKD 5期）的重要病因。据报道，意大利接受肾脏替代治疗（RRT）的患者中ADPKD的患病率为8.2%。在意大利东北部的维琴察省，透析人群中ADPKD占13.4%。本研究旨在调查我们地区ADPKD高患病率的原因，并描述这些患者的临床特征和遗传学情况。
自2007年4月起，招募ADPKD患者。排除非维琴察本地家庭的患者。ADPKD的诊断依据超声标准确定。记录了完整的临床细节，包括家族史。我们使用连锁分析来确定每个家族中涉及的基因。
我们描述了从42个家族中招募的首批100例患者。29例患者在入组时已处于终末期肾病（ESRD）阶段。肾结石和肝囊肿的发生率分别为24%和40%。大多数ADPKD患者（61%）是偶然诊断或通过筛查发现的。86例患者有阳性家族史。在所研究的患者中，83.7%的患者涉及的基因是PKD1，16.3%是PKD2。PKD2患者呈现常见单倍型。
这是意大利东北部首次报道ADPKD患者临床特征和基因分析的流行病学研究。患者的临床特征与先前报道相似，但我们地区ADPKD的患病率较高。常见单倍型的存在符合我们关于本省存在奠基者效应的假设，表明存在一个强大的谱系特异性基因。如果序列分析证实存在相同突变，则可能表明有共同的祖先起源以及特定突变的分离。
