1 - Department of Paediatric Nephrology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK,
2 - Centre for Nephrology, University College London, London, UK,
3 - Division of Nephrology, Bambino Gesu` Children’s Hospital—IRCCS, Rome, Italy,
4 - Pediatric Nephrology—CHU Arnaud de Villeneuve, Montpellier University Hospital, Montpellier, France,
5 - Ali-Asghar Clinical Research Development Center, Iran University of Medical Sciences, Tehran, Iran,
6 - Department of Pediatrics, University of Zielona Go ́ra, Zielona Go ́ra, Poland,
7 - Centre de re ́fe ́rence Maladies re ́nales rares, Bron, France,
8 - ASST Niguarda, Milan, Italy,
9 - Department of Pediatrics, University Hospital of Cologne, Cologne, Germany,
10 - University Hospital Leuven, Leuven, Belgium,
11- King Edward Memorial Hospital, Pune, India,
12 - Department of Pediatrics, Center of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt,
13 - Hospital Universitario Vall d’Hebron, Barcelona, Spain,
14 - Division of Pediatric Nephrology, NRS Medical College, Kolkata, India,
15 - Pediatric Nephrology, Dialysis and Transplant Unit, Azienda Ospedaliera & University of Padova, Padova, Italy,
16 - University Children’s Hospital, Medical School, Skopje, Macedonia,
17 - National Medical and Research Centre for Children’s Health, Moscow, Russia,
18 - Centre Hospitalier Universitaire de Toulouse, Service de Nephrologie Pediatrique, Hopital des Enfants, Centre De Reference des Maladies Re ́nales Rares du Sud Ouest, Toulouse, France,
19 - Hospital Universitario Central de Asturias, Oviedo, Spain,
20 - Radboud University Medical Centre, Nijmegen, The Netherlands,
21 - Nephrology and Dialysis Unit, Department of Woman, Child and Urological Diseases, Azienda Ospedaliero—Universitaria Sant’Orsola- Malpighi, Bologna, Italy,
22 - Charite ́ Universita ̈tsmedizin Berlin, Berlin, Germany,
23 - University Children’s Hospital, Mu ̈nster, Germany,
24 - Wilhelmina Children’s Hospital, University Medical Center, Utrecht, The Netherlands,
25 - Centro Hospitalar de Lisboa Central, Lisbon, Portugal,
26 - Fourth Pediatric Department, Aristotle University, Thessaloniki, Greece,
27 - Lady Cilento Children’s Hospital, Brisbane, Australia,
28 - School of Medicine, the University of Queensland, Brisbane, Australia,
29 - Department of Pediatric Nephrology, Pamukkale University School of Medicine, Denizli, Turkey,
30 - Nephrology Unit Azienda Ospedaliera, Papa Giovani XXIII, Bergamo, Italy,
31 - Karolinska Institutet, Lund University, Sweden,
32 - Group Florence Nightingale Hospitals, I_stanbul, Turkey,
33 - Fondazione Policlinico A. Gemelli, Universita` Cattolica del Sacro Cuore, Rome, Italy,
34 - Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia,
35 - Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca’ Granda—Ospedale Maggiore Policlinico, Milan, Italy,
36 - Department of Translational Medical Sciences, University of Campania “L. Vanvitelli”, Naples, Italy,
37 - Pediatric Department, Lillebaelt Hospital Kolding, Kolding, Denmark,
38 - Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University Hospital of Heidelberg, Heidelberg, Germany,
39 - Haseki Education and Research Hospital, Istanbul, Turkey,
40 - Belarusian State Medical University, Minsk, Belarus,
41 - Department of Genetics, Assistance Publique Hoˆpitaux de Paris, Hoˆpital Europe ́en Georges Pompidou, Paris, France,
42 - Pediatric Nephrology Unit, AOU Policlinic G Martino, Messina, Italy,
43 - Necker Hospital, Paris, France,
44 - Faculty of Medicine, Department of Pediatric Nephrology, Erciyes University, Kayseri, Turkey,
45 - Cukurova University, Adana, Turkey,
46 - Nephrology Centre, Santaros Klinikos, Vilnius University, Vilnius, Lithuania,
47 - University Hospital of Lille, France,
48 - Department of Renal Medicine, Royal Brisbane and Women’s Hospital, Brisbane, Australia,
49 - University Hospital Centre Zagreb, Zagreb, Croatia,
50 - Department of Pediatrics, SMDZ in Zabrze, SUM in Katowice, Poland,
51 - Department of Pediatric Nephrology, Hannover Medical School, Hannover, Germany,
52 - Department of Pediatrics, Seoul University Children’s Hospital, Seoul, Korea,
53 - Institute of Child Health, Kolkata, India and
54 - Medical School, University Children’s Hospital, Skopje, Macedonia
- Abstract published Nephrology Dial Transplantation (2019) 1-11
Background: Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-term outcome.
Methods: We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clini- cal data in an online form.
Results: Adequate data were collected on 340 patients (29 coun- tries, female 52%). Mutation testing had been performed on 206 patients (61%); pathogenic mutations were identified in 170 patients (83%). The median (range) presentation age was 0.5 (0–54) years and age at last follow-up was 11.0 (0–70.0) years. Adult height was slightly below average with a mean (SD score) of ?0.57 (61.16). There was an increased prevalence of chronic kidney disease (CKD) Stage ?2 in children (35%) and adults (82%). Nephrocalcinosis was reported in 88%. Nephrolithiasis was more common with SLC4A1 mutations (42% versus 21%). Thirty-six percent had hearing loss, particularly in ATP6V1B1 (88%). The median (interquartile range) prescribed dose of al- kali (mEq/kg/day) was 1.9 (1.2–3.3). Adequate metabolic con- trol (normal plasma bicarbonate and normocalciuria) was achieved in 158 patients (51%), more commonly in countries with higher gross domestic product (67% versus 23%), and was associated with higher height and estimated glomerular filtra- tion rate.
Conclusion: Long-term follow-up from this large dRTA cohort shows an overall favourable outcome with normal adult height for most and no patient with CKD Stage 5. However, 82% of adult patients have CKD Stages 2–4. Importance of adequate metabolic control was highlighted by better growth and renal function but was achieved in only half of patients.
Keywords: chronic kidney disease, distal renal tubular acidosis, nephrocalcinosis, nephrolithiasis, sensorineural hearing loss