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Long-term outcome and treatment practices in distal Renal Tubular Acidosis

Sergio Camilo Lopez Garcia1, Francesco Emma3, Stephen Walsh1 Mark Fila4, Nakysa Hooman5, Zaniew Marcin6, Aurélia Bertholet-Thomas7, Giacomo Colussi8, Kathrin Ebner9, Elena Levtchenko10, Jyoti Sharma11, Jyoti Singhal11, Neveen A. Soliman12, Gema Ariceta1, Biswanath Basu13, Luisa Murer14, Velibor Tasic15, Alexey Tsyngin16, Stéphne Decramer17, Helena Gil-Peña18, Linda Koster-Kamphuis19, Claudio la Scola20, Jutta Gellerman21, Martin Konrad22, Marc Lilien23, Telma Francisco24, Despoina Tramma25, Peter Trnka26, Selçuk Yüksel27, Maria Rosa Caruso28, Milan Chromek29, Zelal Ekinci30, Giovanni Gambaro31, Jameela Kari32, Jens König22, Francesca Taroni33, Julia Thumfart21, Francesco Trepiccione34, Louise Winding35, Elke Wühl2, Ayşe Ağbaş36, Anna Belkevich37, Rosa Vargas-Poussou38, Anne Blanchard38, Giovanni Conti39, Olivia Boyer40, Ismail Dursun41, Ayşe Seda Coşkun41, Engin Melek42, Marius Miglinas43, Robert Novo44, Andrew Mallett45, Danko Milosevic46, Maria Szczepanska47, Sarah Wente48, dRTA Consortium49 ,Robert Kleta1, Franz Schaefer2, Detlef Bockenhauer1

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 Central, 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

- 51th Annual Scientific Meeting of the European Society for Paediatric Nephrology, Antalya (Turkey), 3-6/October/2018 (oral presentation)
- Award: Selected as one of the best abstracts of the 51th Annual Scientific Meeting of the ESPN

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.

Keywords: distal renal tubular acidosis, nephrocalcinosis, nephrolithiasis, in