ESPN 50th Annual Meeting

ESPN 2017


 
Demographic and clinical characteristics of patients with autosomal dominant polycystic kidney disease: a single center experience.
IBRAHİM GOKCE 1 ÜLGER ALTUNTAŞ 1 NURDAN YILDIZ 1 MEHTAP SAK 1 HARIKA ALPAY 1

1- MARMARA UNIVERSITY MEDICAL FACULTY
 
Introduction:

 Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, with a prevalance of 1:500 to 1/1000. ADPKD is genetically heterogeneous: the genes involved are PKD1 and PKD2.The aim of this study was to investigate patients with ADPKD.

Material and methods:

 We evaluated every child with ADPKD diagnosed between October 2002 and January 2017.  The diagnosis was based on familiy history and ultrasound confirmation of cysts. The investigated demographic and clinical characteristics were gender, age at diagnosis, mode of presentation, parental inheritance pattern, renal function, and the existence of hypertension, hematuria, proteinuria, and pyuria. Follow up of patients were also noted.

Results:

 A total of 61 patients with ADPKD were analyzed; 36(59%) patients were female and 25(41%) were male. The mean age at onset and admission(± standard deviation) of the patients was  96.98±53.60 (range: 0-176, median: 102.5) and 108.77±53.07(range: 3-187, median:113) months respectively. The mean follow-up time was 24.59±28.59(range: 3-153, median: 14) months. Nine patients(15%) were diagnosed in the first year of life. Family history of ADPKD was known at presentation in all patients. The most common presentations leading to diagnosis of ADPKD were positive family history for 24 patients(39%), abdomainal pain or mass for 15 patients(25%), other causes for 12 patients(20%) and antenatal detection of cysts with USG for 4 patients(7%). Bilateral renal findings were present in 43(70%), HT in 6 patients(10%). 98% of the patients had normal renal function. Only one patient was followed as chronic kidney disease. Thirteen patients(21%) had persistent proteinuria, 10(16%) had pyuria, and 2(3%) had microscopic hematuria. One patient had hepatic cysts, and none of them had splenic or pancreatic cysts.

Conclusions:

 The results of the present study are better than most other series. The majority of children with ADPKD in this study were found to have a good prognosis.