ESPN 54th Annual Meeting

ESPN 2022


 
CLINICAL COURSE OF ADOLESCENT ONSET ATYPICAL HEMOLYTIC UREMIC SYNDROME: A STUDY OF TURKISH AHUS REGISTRY
KUBRA CELEGEN 1 BORA GULHAN 2 KIBRIYA FIDAN 3 SELCUK YUKSEL 4 NESLIHAN YILMAZ 4 AYSUN ÇALTIK YILMAZ 5 BELTINGE DEMIRCIOĞLU KILIÇ 6 IBRAHIM GOKCE 7 ASLI KAVAZ TUFAN 8 MUKADDES KALYONCU 9 HULYA NALCACIOGLU 10 SARE GULFEM OZLU 11 EDA DIDEM KURT SUKUR 2 NUR CANPOLAT 12 AYSUN K. BAYAZIT 13 MUSTAFA KOYUN 14 YILMAZ TABEL 15 SEBAHAT TULPAR 16 MEHTAP CELAKIL 17 KENAN BEK 18 CENGIZ ZEYBEK 19 ALI DUZOVA 2 ZEYNEP BIRSIN OZCAKAR 20 REZAN TOPALOGLU 2 OGUZ SOYLEMEZOGLU 3 FATIH OZALTIN 2

1- DIVISION OF PEDIATRIC NEPHROLOGY, AFYONKARAHISAR HEALTH SCIENCES UNIVERSITY, AFYONKARAHISAR, TURKEY
2- DIVISION OF PEDIATRIC NEPHROLOGY, HACETTEPE UNIVERSITY FACULTY OF MEDICINE, ANKARA, TURKEY
3- DIVISION OF PEDIATRIC NEPHROLOGY, GAZI UNIVERSITY FACULTY OF MEDICINE, ANKARA, TURKEY
4- DIVISION OF PEDIATRIC NEPHROLOGY, PAMUKKALE UNIVERSITY FACULTY OF MEDICINE, DENIZLI, TURKEY
5- DIVISION OF PEDIATRIC NEPHROLOGY, BASKENT UNIVERSITY FACULTY OF MEDICINE, ANKARA, TURKEY
6- DIVISION OF PEDIATRIC NEPHROLOGY, GAZIANTEP UNIVERSITY FACULTY OF MEDICINE, GAZIANTEP, TURKEY
7- DIVISION OF PEDIATRIC NEPHROLOGY, MARMARA UNIVERSITY FACULTY OF MEDICINE, ISTANBUL, TURKEY
8- DIVISION OF PEDIATRIC NEPHROLOGY, OSMANGAZI UNIVERSITY FACULTY OF MEDICINE, ESKISEHIR, TURKEY
9- DIVISION OF PEDIATRIC NEPHROLOGY, KARADENIZ TECHNICAL UNIVERSITY, FACULTY OF MEDICINE, TRABZON, TURKEY
10- DIVISION OF PEDIATRIC NEPHROLOGY,ONDOKUZ MAYIS UNIVERSITY FACULTY OF MEDICINE, SAMSUN, TURKEY
11- DIVISION OF PEDIATRIC NEPHROLOGY, ANKARA CITY TRAINING AND RESEARCH HOSPITAL, ANKARA, TURKEY
12- DIVISION OF PEDIATRIC NEPHROLOGY, ISTANBUL UNIVERSITY, CERRAHPASA FACULTY OF MEDICINE, ISTANBUL, TURKEY
13- DIVISION OF PEDIATRIC NEPHROLOGY, CUKUROVA UNIVERSITY FACULTY OF MEDICINE, ADANA, TURKEY
14- DIVISION OF PEDIATRIC NEPHROLOGY, AKDENIZ UNIVERSITY FACULTY OF MEDICINE, ANTALYA, TURKEY
15- DIVISION OF PEDIATRIC NEPHROLOGY, INONU UNIVERSITY FACULTY OF MEDICINE, MALATYA, TURKEY
16- DIVISION OF PEDIATRIC NEPHROLOGY, UNIVERSITY OF HEALTH SCIENCES, ISTANBUL BAKIRKOY DR. SADI KONUK RESEARCH AND TRAINING HOSPITAL, İSTANBUL, TURKEY
17- DIVISION OF PEDIATRIC NEPHROLOGY, SAKARYA UNIVERSITY TRAINING AND RESEARCH HOSPITAL, SAKARYA, TURKEY
18- DIVISION OF PEDIATRIC NEPHROLOGY, KOCAELI UNIVERSITY FACULTY OF MEDICINE, KOCAELI, TURKEY
19- DIVISION OF PEDIATRIC NEPHROLOGY, GULHANE TRAINING AND RESEARCH HOSPITAL, ANKARA, TURKEY
20- DIVISION OF PEDIATRIC NEPHROLOGY, ANKARA UNIVERSITY FACULTY OF MEDICINE, ANKARA, TURKEY
 
Introduction:

Atypical hemolytic uremic syndrome (aHUS) is a rare, mostly complement-mediated thrombotic microangiopathy. The majority of patients are infants. Our study aims to describe the clinical manifestations and genetic features of adolescent-onset aHUS.  

Material and methods:

Patients who were diagnosed as aHUS between the ages of ≥10 years and <18 years were defined as adolescent-onset aHUS, characterized by triad of microangiopathic hemolytic anemia, thrombocytopenia and acute kidney injury. The relevant data of the patients were obtained from the Turkish Pediatric aHUS registry. 

Results:

A total of 27 patients (20 female, 7 male) from different families were included. The mean age at diagnosis was 12.8±2.3 years. The mean follow-up duration was 4.5±2.1 years. Consanguinity was present in 11 families (48%). A total of 21 patients (77.8%) required acute renal replacement therapy. Extra-renal involvement was noted in 11 patients (40.7%); neurological involvement was the most common (33%). In six patients (22.2%), only plasma therapy was administered, in eight patients (29.6%) eculizumab was administered as first-line therapy. In 13 patients (48.1%), eculizumab was initiated because of unresponsiveness to the plasma therapy. Remission was achieved in 20 patients (74%) in the acute phase. Genetic screening for the mutations in the relevant genes was resulted as the following: CFHR 1-3 deletion (n=4, 14.8%), C3 mutation (n=2, 7.4%), CFH mutation (n=2, 7.4%), CFI mutation (n=1, 3.7%) and no mutation (n=18, 66.6%). Proteinuria and hypertension persisted in 9 (33.3%) and 11 patients (40.7%), respectively. End stage kidney disease was developed in 3 patients (11%). In follow-up, eculizumab was discontinued in 15 patients (55.6%) and relapse was observed in 1 (3.7%) patient.

Conclusions:

Adolescent-onset aHUS is a very rare disease and may have different characteristics compared to infants. To our best knowledge, this study is the first mainly focusing on adolescence aHUS providing age-specific clinical and genetic features.