| Abstract |
The aim of this study is the clinical presentation of Autosomal Dominant Polycystic Kidney Disease, type 1 and 2 among Cypriot families. We report on a study designed to compare the diagnostic sensitivity and specificity of renal ultrasound in ADPKD1 & 2 and also to define the clinical differences between these two diseases. The material consisted of a) 121 live members at 50% risk of the disease in 11 Cypriot families with ADPKD1 and b) 230 live members in 3 families with ADPKD2. DNA genetic linkage or/and mutation analyses were used to categorize 351 members into affected and non affected for ADPKD1 & 2. A detailed renal and hepatic ultrasound examination was used for diagnosing ADPKD. In addition, a detailed medical history, clinical examination and laboratory tests were obtained. A comparative analysis of the prevalence of chronic renal failure (CRF), hypertension, liver cysts, episodes of renal pain, nephrolithiasis, hematuria and urinary tract infection in 351 live ADPKD1 & 2 patients has been completed. Using data from 42 additional patients in these families who died with this disease (22 for ADPKD1 and 20 for ADPKD2), we also defined their causes of death, and compared the mean ages at end stage renal failure (ESRF) and death together with time of survival on dialysis. The results showed that: 1. Ultrasound diagnosis of ADPKD1 can reliably be made at age 20 and over while in ADPKD2 the critical age is 30. In ADPKD1 the overall false positive rate was only 1,8% and false negative rate 10,6%. In ADPKD2 the overall false positive rate was 9,5% and the false negative rate 15,2%. 2. In the live patients, CRF developed in 33,3% of ADPKD1 patients compared to 10,9% in ADPKD2 (p=0,0003). Taking into account the diseased patients too, this difference was 50% against 24,6% (p< 0,001). In ADPKD1 the mean age at ESRF was 52,8 years, mean survival on dialysis 7,1 years and mean age death 59,9 years. In ADPKD2 the corresponding figures were 65,7 years (p< 0,001), 5,1 years (p< n.s.) and 70,7 years (p< 0,005). There was no significant difference in the prevalence of episodes of renal pain, nephrolithiasis, hematuria and urinary tract infections. The prevalence of hypertension in ADPKD1 was 33,3% and the mean age of onset 36,4 years. In ADPKD2 the prevalence was lower at 26,4% and the mean age of onset later at 42,6 yrs. The differences did not reach statistical significance. Significant differences were observed in overall prevalence of hepatic cysts. This was 24,2% in ADPKD1 compared to 10% in ADPKD2 (p=0,02). In conclusion, DNA analysis remains the gold standard for the diagnosis of ADPKD1 & 2 especially in young people. Under the age of 15, ultrasound is not recommended as a routine diagnostic procedure. Ultrasound becomes 100% reliable in excluding ADPKD1 in family members at 50% risk, over the age of 20 and in ADPKD2 families over the age of 30. Hepatic cysts and CRF develop more frequently and at a younger age in ADPKD1 compared to ADPKD2. At the same time patients with ADPKD2 reach ESRF much later than ADPKD1 patients and die much later. This detailed, comparative study conclusively confirms that ADPKD1 is more severe disease than ADPKD2.
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Μελέτη αυτοσωματικής επικρατούσας μορφής πολυκυστικής νόσου των νεφρών (ΑΕΠΝΝ) τύπου 1 και 2 στην Κύπρο
