ESPN 51th Annual Meeting

ESPN 2018


 
Long-term outcome and treatment practices in distal Renal Tubular Acidosis
SERGIO CAMILO LOPEZ GARCIA 1 FRANCESCO EMMA 3 STEPHEN WALSH 1 MARC FILA 4 NAKYSA HOOMAN 5 ZANIEW MARCIN 6 AURéLIA BERTHOLET-THOMAS 7 GIACOMO COLUSSI 8 KATHRIN EBNER 9 ELENA LEVTCHENKO 10 JYOTI SHARMA 11 JYOTI SINGHAL 11 NEVEEN A. SOLIMAN 12 GEMA ARICETA 1 BISWANATH BASU 13 LUISA MURER 14 VELIBOR TASIC 15 ALEXEY TSYGIN 16 STéPHANE DECRAMER 17 HELENA GIL-PEñA 18 LINDA KOSTER-KAMPHUIS 19 CLAUDIO LA SCOLA 20 JUTTA GELLERMANN 21 MARTIN KONRAD 22 MARC LILIEN 23 TELMA FRANCISCO 24 DESPOINA TRAMMA 25 PETER TRNKA 26 SELÇUK YÜKSEL 27 MARIA ROSA CARUSO 28 MILAN CHROMEK 29 ZELAL EKINCI 30 GIOVANNI GAMBARO 31 JAMEELA KARI 32 JENS KÖNIG 22 FRANCESCA TARONI 33 JULIA THUMFART 21 FRANCESCO TREPICCIONE 34 LOUISE WINDING 35 ELKE WÜHL 2 AYŞE AĞBAŞ 36 ANNA BELKEVICH 37 ROSA VARGAS-POUSSOU 38 ANNE BLANCHARD 38 Giovanni Conti 39 Olivia Boyer 40 Ismail Dursun 41 Ayşe Seda Coşkun 41 Engin Melek 42 Marius Miglinas 43 Robert Novo 44 Andrew Mallett 45 Danko Milosevic 46 Maria Szczepanska 47 Sarah Wente 48 dRTA Consortium 49 Robert Kleta 1 Franz Schaefer 2 Detlef Bockenhauer 1

1- CENTRE FOR NEPHROLOGY, UNIVERSITY COLLEGE LONDON INSTITUTE OF CHILD HEALTH, LONDON, UK
2- SEKTION PäDIATRISCHE NEPHROLOGIE, UNIVERSITäT HEIDELBERG, GERMANY
3- BAMBINO GESù CHILDRENS HOSPITAL, ROME, ITALY
4- CHU ARNAUD DE VILLENEUVE, MONTPELLIER, FRANCE
5- ALI-ASGHAR CLINICAL RESEARCH DEVELOPMENT CENTER, IRAN UNIVERSITY OF MEDICAL SCIENCES, TEHRAN, IRAN
6- CHILDRENS HOSPITAL, POZNAN, POLAND
7- CENTRE DE RéFéRENCE MALADIES RéNALES RARES, BRON, FRANCE
8- ASST NIGUARDA – MILAN, ITALY
9- UNIVERSITY HOSPITAL OF COLOGNE, GERMANY
10- UNIVERSITY HOSPITAL LEUVEN, BELGIUM
11- KING EDWARD MEMORIAL HOSPITAL, PUNE, INDIA
12- CENTER OF PEDIATRIC NEPHROLOGY & TRANSPLANTATION, CAIRO, EGYPT
13- NRS MEDICAL COLLEGE, KOLKATA, INDIA
14- DIALYSIS AND TRANSPLANT UNIT- AZ. OSP., PADOVA, ITALY
15- UNIVERSITY CHILDRENS HOSPITAL, MEDICAL SCHOOL, SKOPJE, MACEDONIA
16- CENTRE FOR CHILDRENS HEALTH, MOSCOW, RUSSIA
17- CHILDREN’S HOSPITAL OF TOULOUSE, FRANCE
18- HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS, OVIEDO, SPAIN
19- RADBOUD UNIVERSITY MEDICAL CENTRE, NIJMEGEN, NETHERLANDS
20- AZIENDA OSPEDALIERO UNIVERSITARIA SANTORSOLA MALPIGHI, BOLOGNA, ITALY
21- CHARITé UNIVERSITäTSMEDIZIN BERLIN, GERMANY
22- UNIVERSITY CHILDRENS HOSPITAL, MÜNSTER, GERMANY
23- WILHELMINA CHILDRENS HOSPITAL, UTRECHT, NETHERLANDS
24- CENTRO HOSPITALAR DE LISBOA OCIDENTAL, LISBON, PORTUGAL
25- 4TH PED.DEP. ARISTOTLE UNIVERSITY, THESSALONIKI, GREECE
26- LADY CILENTO CHILDREN’S HOSPITAL, BRISBANE, AUSTRALIA
27- PAMUKKALE UNIVERSITY SCHOOL OF MEDICINE, DENIZLI, TURKEY
28- NEPHROLOGY UNIT AZIENDA OSPEDALIERA PAPA GIOVANI XXIII BERGAMO, ITALY
29- LUND UNIVERSITY, SWEDEN
30- KOCAELI UNIVERSITY DEPT. OF PEDIATRIC NEPHROLOGY, KOCAELI, TURKEY
31- COLUMBUS-GEMELLI UNIVERSITY HOSPITAL, ROME, ITALY
32- KING ABDULAZIZ MEDICAL CITY, JEDDAH, SAUDI ARABIA
33- OSPEDALE MAGGIORE POLICLINICO, MILANO, ITALY
34- NEPHROLOGY UNIVERSITY OF CAMPANIA, NAPLES, ITALY
35- PEDIATRIC DEPARTMENT, LILLEBAELT HOSPITAL KOLDING, DENMARK
36- HASEKI EDUCATION AND RESEARCH HOSPITAL, ISTANBUL, TURKEY
37- 2ND CITY CHILDREN’S HOSPITAL, MINSK, BELARUS
38- HôPITAL EUROPéEN GEORGES POMPIDOU, PARIS, FRANCE
39- A.O.U. Policlinico "G. Martino". Messina, Italy
40- Necker hospital, Paris, France
41- Erciyes Unıversity, Kayseri, Turkey
42- Cukurova University, Adana, Turkey
43- Vilnius university, Santaros klinikos, Vilnius, Lithuania
44- Hop jeanne de flandre chr Lille, France
45- Royal Brisbane and Women’s Hospital, Brisbane, Australia
46- University Hospital Centre Zagreb, Croatia
47- Department of Pediatrics, SMDZ in Zabrze, SUM in Katowice, Poland
48- Medizinische Hochschule Hannover, Germany.
49- ESPN, ERA/EDTA and ERKNet working groups for inherited kidney disorders
 
Introduction:

 Inherited distal renal tubular acidosis (dRTA) is a rare disorder and consequently little data about treatment and long-term outcome exist.

Material and methods:

We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data in an online form.

Results:

333 responses with complete data were received (29 countries, female 52%, median age 11 (range 0-70 years). Mutation testing had been performed in 206 (62%), with pathogenic mutations identified in 168 (82%, divided into: ATP6V1B1 37%, ATP6V0A4 34% and SLC4A1 29%). The median (range) age at presentation was 0.5 years (0-54) and at last follow up 11.0 years (0-70.0).

The median (interquartile range) prescribed dose of alkali treatment in mEq/kg/day was 1.9 (1.1-3.1), normal plasma bicarbonate levels were achieved in the majority of patients (78.4%). Adult height was only slightly below average with a mean height SDS (standard deviation score) of -0.51 (±1.04) at a median (range) age of 28 (18-70) (N=68). Estimated glomerular filtration rate (eGFR, by Cockcroft-Gault) at last follow up in adults established the presence of chronic kidney disease stages 2-4 in 52%. Nephrocalcinosis was common (87.1%). A history of nephrolithiasis was more common with SLC4A1 mutations (45.8%) compared to the autosomal recessive forms (19.1%), p=0.002.

Hearing loss was reported (35.4%) with the highest prevalence in patients with ATP6V1B1 mutation (83.1%).

Conclusions:

Long term follow-up from this large cohort of patients with dRTA shows an overall favourable outcome with regards to growth but half of adult patients have decreased eGFR. Treatment adequacy as judged by plasma bicarbonate and normocalciuria is achieved in most patients.