Clinical pattern of adult polycystic kidney disease in a northeastern region of Italy

Back ground: 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 world wide and in all ethnic groups and is an important cause of CKD Stage 5. Prevalence of ADPKD on renal re placement therapy (RRT) in Italy has been reported to be 8.2%. In the dialysis population of Vicenza, a province in North east ern Italy, it accounts for 13.4%. The study aims to investigate rea sons for the high prevalence of ADPKD in our region and to de scribe the clinical pro file and genetics of these patients. Methods: Since April 2007, ADPKD patients have been en rolled. Patients from families not native to Vicenza have been excluded. The diagnosis of ADPKD is de fined by ultra sound criteria. Complete clinical de tails have been re corded, including family history. We have used link age analysis to identify the gene involved in each family. Results: We de scribe the first 100 patients recruited from a to tal 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 re corded 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. Conclusions: It is the first epidemiological study from North east ern Italy reporting clinical pro file and genetic analysis of ADPKD patients. The clinical pro file of the patients is similar to previous re ports, 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 con firms the same mutation, this might suggest a common ancestral origin and a segregation of a specific mutation.