ESPN 51th Annual Meeting

ESPN 2018


 
EVALUATION OF PATIENTS WITH PRIMARY HYPEROXALURIA TYPE 1: A MULTICENTER STUDY
SEVCAN A. BAKKALOĞLU 1 BAHAR BÜYÜKKARAGÖZ 1 SEHA SAYGILI 2 ELİF ÇOMAK 3 ZEYNEP YÜRÜK YILDIRIM 4 NURVER AKINCI 5 AYSUN KARABAY BAYAZIT 6 ASLI KAVAZ 7 SEMA AKMAN 3 ALEV YILMAZ 4 İSMAİL DURSUN 8 AYTÜL NOYAN 9 AYŞE AĞBAŞ 10 ERKİN SERDAROĞLU 11 ALİ DELİBAŞ 12 AHMET MİDHAT ELMACI 13 MEHMET TAŞDEMİR 14 LALE SEVER 2

1- GAZİ UNIVERSITY, DEPARTMENT OF PEDIATRIC NEPHROLOGY
2- İSTANBUL UNIVERSITY, CERRAHPAŞA FACULTY OF MEDICINE, DEPARTMENT OF PEDIATRIC NEPHROLOGY
3- AKDENİZ UNIVERSITY, DEPARTMENT OF PEDIATRIC NEPHROLOGY
4- İSTANBUL UNIVERSITY, İSTANBUL FACULTY OF MEDICINE, DEPARTMENT OF PEDIATRIC NEPHROLOGY
5- ŞİŞLİ ETFAL RESEARCH AND TRAINING HOSPITAL, DEPARTMENT OF PEDIATRIC NEPHROLOGY
6- ÇUKUROVA UNIVERSITY, DEPARTMENT OF PEDIATRIC NEPHROLOGY
7- OSMANGAZİ UNIVERSITY, DEPARTMENT OF PEDIATRIC NEPHROLOGY
8- ERCİYES UNIVERSITY, DEPARTMENT OF PEDIATRIC NEPHROLOGY
9- BAŞKENT UNIVERSITY ADANA HOSPITAL, DEPARTMENT OF PEDIATRIC NEPHROLOGY
10- HASEKİ RESEARCH AND TRAINING HOSPITAL, DEPARTMENT OF PEDIATRIC NEPHROLOGY
11- DR. BEHÇET UZ CHILDREN HOSPITAL, DEPARTMENT OF PEDIATRIC NEPHROLOGY
12- MERSİN UNIVERSITY, DEPARTMENT OF PEDIATRIC NEPHROLOGY
13- KONYA MATERNAL AND CHILDREN HOSPITAL, PEDIATRIC NEPHROLOGY UNIT
14- KOÇ UNIVERSITY, DEPARTMENT OF PEDIATRIC NEPHROLOGY
 
Introduction:

Primary hyperoxaluria type 1 (PH1), the metabolic disorder of the glyoxylate pathway, is characterized by nephrocalcinosis/urolithiasis which progresses to end-stage kidney disease (ESKD). We aimed to evaluate the overall characteristics of pediatric PH1 patients followed-up in 14 centers in Turkey.

Material and methods:

Questionnaires including demographics, past medical/family histories, diagnostic methods, chronic kidney disease (CKD) stages, co-morbidities and outcomes were recorded.

Results:

Fourty-four children (21 girls/23 boys) were recruited. Age at the onset of initial signs ranged from 2 months to 13 years. Parental consanguinity, family history of nephrolithiasis, and CKD were present in 66%, 43% and 39% of the patients, respectively. At presentation, there were nephrocalcinosis/nephrolithiasis in 68% and 59%, respectively. Moreover, 57% of the children had CKD stage 5 necessitating dialysis treatment. Stone analysis showed calcium oxalate in 18%. Diagnosis was made with genetic analysis (30%); renal biopsy (3%), liver alanine-glyoxylate aminotransferase enzyme levels (3%); urinary oxalate levels+nephrocalcinosis (3%); or more than one methods (60%). Overall confirmation was made with genetic analysis in 87%. Lag time for diagnosis was 1.5 years. Cardiac and skeletal co-morbidities (36% and 23%, respectively) were the most common. 18% of patients were wheelchair-bound, and only 50% of the school-age children could have attended to school in the follow-up. Isolated renal transplantation was performed in one child who survived 6-years post-transplantation. Four patients with isolated liver transplantation had good prognosis. Two of four cases with combined liver/kidney transplantation died in early post-transplantation period. At the time of data collection, 48% of active patients were dialysis dependent, mortality rate was 23%.

Conclusions:

Despite increased awareness of PH1 and availability of genetic testing, our results indicate that ESKD is evident at initial presentation in the majority of the cases, transplantation rates remain to be low and long-term outcomes are still poor in our patients.