ESPN 54th Annual Meeting

ESPN 2022


 
RISK FACTORS FOR KIDNEY SURVIVAL IN PATIENTS WITH AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE (ARPKD)
KATHRIN BURGMAIER 1 SAMUEL KILIAN 2 ANJA BÜSCHER 3 ISMAIL DURSUN 4 MARC FILA 5 IBRAHIM GOKCE 6 NAKYSA HOOMAN 7 MATKO MARLAIS 8 LAURA MASSELLA 9 ANTONIO MASTRANGELO 10 DJALILA MEKAHLI 11 LUKASZ OBRYCKI 12 LARISA PRIKHODINA 13 BRUNO RANCHIN 14 LUTZ T. WEBER 1 ELKE WÜHL 15 KATARZYNA ZACHWIEJA 16 JÖRG DÖTSCH 1 FRANZ SCHAEFER 15 MAX LIEBAU 17

1- DEPARTMENT OF PEDIATRICS, UNIVERSITY HOSPITAL COLOGNE AND UNIVERSITY OF COLOGNE, FACULTY OF MEDICINE, COLOGNE, GERMANY
2- INSTITUTE OF MEDICAL BIOMETRY, UNIVERSITY OF HEIDELBERG, HEIDELBERG, GERMANY
3- DEPARTMENT OF PEDIATRICS II, UNIVERSITY HOSPITAL ESSEN, ESSEN, GERMANY
4- DEPARTMENT OF PEDIATRIC NEPHROLOGY, ERCIYES UNIVERSITY, FACULTY OF MEDICINE, KAYSERI, TURKEY
5- PEDIATRIC NEPHROLOGY UNIT, CHU ARNAUD DE VILLENEUVE-UNIVERSITé DE MONTPELLIER, MONTPELLIER, FRANCE
6- RESEARCH AND TRAINING HOSPITAL, DIVISION OF PEDIATRIC NEPHROLOGY, MARMARA UNIVERSITY, ISTANBUL, TURKEY
7- DEPARTMENT OF PEDIATRIC NEPHROLOGY, ALI-ASGHAR CHILDREN HOSPITAL, ALI-ASGHAR CLINICAL RESEARCH DEVELOPMENT CENTER (AACRDC), IRAN UNIVERSITY OF MEDICAL SCIENCES, TEHRAN, IRAN
8- UCL GREAT ORMOND STREET HOSPITAL FOR CHILDREN INSTITUTE OF CHILD HEALTH, UCL, LONDON, UK
9- DIVISION OF NEPHROLOGY, DEPARTMENT OF PEDIATRIC SUBSPECIALTIES, BAMBINO GESù CHILDREN’S HOSPITAL, IRCCS, ROME, ITALY
10- PEDIATRIC NEPHROLOGY, DIALYSIS AND TRANSPLANT UNIT, FONDAZIONE IRCCS Cà GRANDA, OSPEDALE MAGGIORE POLICLINICO, MILAN, ITALY
11- DEPARTMENT OF PEDIATRIC NEPHROLOGY, UNIVERSITY HOSPITALS LEUVEN, LEUVEN, BELGIUM AND DEPARTMENT OF DEVELOPMENT AND REGENERATION, PKD RESEARCH GROUP, KU LEUVEN, LEUVEN, BELGIUM
12- THE CHILDRENS MEMORIAL HEALTH INSTITUTE, WARSAW, POLAND
13- DEPARTMENT OF INHERITED AND ACQUIRED KIDNEY DISEASES, RESEARCH CLINICAL INSTITUTE FOR PEDIATRICS N.A. ACAD. Y. E. VELTISHEV, PIROGOV RUSSIAN NATIONAL RESEARCH MEDICAL UNIVERSITY, MOSCOW, RUSSIA
14- PEDIATRIC NEPHROLOGY UNIT, HôPITAL FEMME MèRE ENFANT, HOSPICES CIVILS DE LYON, CENTRE DE RéFéRENCE MALADIES RéNALES RARES, BRON, FRANCE
15- DIVISION OF PEDIATRIC NEPHROLOGY, CENTER FOR PEDIATRICS AND ADOLESCENT MEDICINE, UNIVERSITY OF HEIDELBERG, HEIDELBERG, GERMANY
16- DEPARTMENT OF PEDIATRIC NEPHROLOGY AND HYPERTENSION, FACULTY OF MEDICINE, JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE, KRAKOW, POLAND
17- DEPARTMENT OF PEDIATRICS, UNIVERSITY HOSPITAL COLOGNE, CENTER FOR MOLECULAR MEDICINE, UNIVERSITY HOSPITAL COLOGNE AND UNIVERSITY OF COLOGNE, FACULTY OF MEDICINE, COLOGNE, GERMANY
 
Introduction:

Autosomal recessive polycystic kidney disease (ARPKD) is a rare but severe early-onset disease with pronounced phenotypic variability. It is mainly caused by variants in the PKHD1 gene. We previously elucidated genotype-phenotype correlations and identified prenatal sonographic risk markers. Here, we aimed to describe further clinical and sonographic risk markers and to weigh their impact on kidney survival.

Material and methods:

We analysed clinical datasets of 605 ARPKD patients from the ARegPKD registry study. Kidney survival and yearly eGFR loss were analysed in the overall cohort as well as in subgroup analyses in children with kidney survival >1.0 years.

Results:

Ten-year kidney survival differed relevantly according to the factors prematurity (gestational age at birth <37 weeks; 48% vs. 79%), prenatal renal cysts (55% vs. 83%), prenatal renal hyperplasia (50% vs. 83%), oligo-/anhydramnios (50% vs. 86%), age at diagnosis (47% if prenatal diagnosis, 70% if diagnosis within first year of life, 93% if diagnosis ≥1.0 year) and postnatal assisted breathing or ventilation (40% vs. 83%). Type of assisted breathing/ventilation is relevant with 10-year-survival of 63% if CPAP, 35% if conventional ventilation and 26% if high-frequency oscillation was applied postnatally. Genetic risk factors are consistent with previously reported results showing worst kidney survival in patients with two Null PKHD1 variants. Mean yearly eGFR loss in all patients with kidney survival >1.0 years was 1.0 ml/min/1.73m². Type of assisted breathing/ventilation was consistently relevant for yearly eGFR loss, which was highest in patients with reported high-frequency oscillation ventilation (1.9 ml/min/1.73m²) and lowest in patients without perinatal assisted breathing/ventilation (0.8 ml/min/1.73m²).

Conclusions:

We identified a number of pre-, peri- and postnatal sonographic, clinical and genetic risk factors associated with poor kidney survival in children and adolescents with ARPKD. We are currently integrating these data into joint models aiming to establish a predictive model for kidney survival.