Corradi Valentina, Gastaldon Fiorella, Virzi' Grazia Maria, Clementi Maurizio, Nalesso Federico, Cruz Dinna N, de Cal Massimo, Torregrossa Rossella, Ronco Claudio
Dipartimento Interaziendale di Nefrologia, Dialisi e Trapianto Renale, Ospedale San Bortolo, Vicenza, Italy.
G Ital Nefrol. 2010 Nov-Dec;27(6):655-63.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disorder, with a prevalence of 1:400 to 1:1000. ADPKD is genetically and clinically heterogeneous. In addition, significant intrafamilial renal disease variability is evident. The prevalence of ADPKD patients on renal replacement therapy in Italy has been reported to be 8.2%. In the dialysis population of Vicenza province (northeast Italy), in one area especially, ADPKD cases account for 13.4%. We hypothesize that this high frequency is related to a founder effect in this geographically isolated population. Since April 2007 we have studied the characteristics of ADPKD patients and the presence of haplotypes shared by several families. The clinical profile of patients in the Vicenza province is similar to that described in the literature but there is a high prevalence of ADPKD in several isolated areas. These areas are characterized by the presence of three distinct haplotypes, suggesting a strong lineage-specific gene.
常染色体显性多囊肾病（ADPKD）是最常见的遗传性肾脏疾病，患病率为1:400至1:1000。ADPKD在遗传和临床方面具有异质性。此外，家族内肾脏疾病的显著变异性也很明显。据报道，意大利接受肾脏替代治疗的ADPKD患者患病率为8.2%。在维琴察省（意大利东北部）的透析人群中，特别是在一个地区，ADPKD病例占13.4%。我们推测这种高频率与这个地理上孤立的人群中的奠基者效应有关。自2007年4月以来，我们研究了ADPKD患者的特征以及几个家族共有的单倍型的存在情况。维琴察省患者的临床特征与文献中描述的相似，但在几个孤立地区ADPKD的患病率很高。这些地区的特征是存在三种不同的单倍型，提示存在一个强大的谱系特异性基因。
