ESPN 51th Annual Meeting

ESPN 2018


 
Clinical and Mutational Spectrum of Children with Autosomal Recessive and Autosomal Dominant Polycystic Kidney Disease
ÖZÜM TÜRKOĞLU 1 BORA GÜLHAN 2 SELÇUK YÜKSEL 3 SALIM ÇALIŞKAN 4 ALI DÜZOVA 2 NILGÜN ÇAKAR 5 OĞUZ SÖYLEMEZOĞLU 6 REZAN TOPALOGLU 2 FATIH ÖZALTIN 2

1- HACETTEPE UNIVERSITY FACULTY OF MEDICINE DEPARTMENT OF PEDIATRICS
2- HACETTEPE UNIVERSITY FACULTY OF MEDICINE, DIVISION OF PEDIATRIC NEPHROLOGY
3- PAMUKKALE UNIVERSITY FACULTY OF MEDICINE, DIVISION OF PEDIATRIC NEPHROLOGY
4- İSTANBUL UNIVERSITY CERRAHPAŞA FACULTY OF MEDICINE, DIVISION OF PEDIATRIC NEPHROLOGY
5- ANKARA UNIVERSITY FACULTY OF MEDICINE, DIVISION OF PEDIATRIC NEPHROLOGY
6- GAZI UNIVERSITY FACULTY OF MEDICINE, DIVISION OF PEDIATRIC NEPHROLOGY
 
Introduction:

Cystic kidney diseases are a heterogeneous group of chronic renal disease. Autosomal recessive polycystic kidney disease (ARPKD) is generally diagnosed in utero or at birth due to mutations in PKHD1 gene. Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease associated with mutations in PKD1/ PKD2 genes. Clinical and genetic features are important to differentiate them promptly. This study aimed to investigate clinical and genetic features of ARPKD and ADPKD in a group of Turkish patients. 

Material and methods:

 A total of 23 patients with genetically confirmed ARPKD (6 males, 4 females) and ADPKD (7 males, 6 females) were studied. Clinical and laboratory findings at presentation and during 12 months intervals were collected.

Results:

 For ARPKD patients, the mean age at diagnosis was 5.5±5.2 months. At the time of diagnosis, 5 patients had eGFR<90 ml/min/1.73m2. Ultrasonography showed increased echogenicity in 9 and nephrocalsinosis in 2 patients. Extra-renal findings include liver cysts in 2 patients and splenomegaly in another. Mean duration of follow-up was 4.3±4.6 years. At last visit mean eGFR was 100.5±63.5 ml/min/1.73m2. All patients had bi-allelic PKHD1 mutation.

For ADPKD patients, the mean age at diagnosis was 4.5±4.2 years. The most common finding at presentation was abdominal distention (n=4). At the time of diagnosis 2 patients had eGFR<90 ml/min/1.73m2. Liver cyst and dilatation in biliary duct was present in one patient. Mean duration of follow-up was 1.6±2.1 years. At last visit, mean eGFR was 170.1±65 ml/min/1.73m2.  A total of 11 patients (85%) have PKD1 mutation and two patients (15%) had PKD2 mutation.

Conclusions:

 Cystic kidney diseases are one of the most clinically and genetically heterogenous diseases. Differentiating them is important to provide appropriate management including choosing appropriate donor in renal transplantation.