Sergio Camilo Lopez-Garcia1,2, Francesco Emma3, Stephen B Walsh2, Marc Fila4, Nakysa Hooman5, Marcin Zaniew6, Aurélia Bertholet-Thomas7, Giacomo Colussi8, Kathrin Burgmaier9, Elena Levtchenko10, Jyoti Sharma11, Jyoti Singhal11, Neveen A Soliman12, Gema Ariceta13, Biswanath Basu14, Luisa Murer15, Velibor Tasic16, Alexey Tsygin17, Stéphane Decramer18, Helena Gil-Peña19, Linda Koster-Kamphuis20, Claudio La Scola21, Jutta Gellermann22, Martin Konrad23, Marc Lilien24, Telma Francisco25, Despoina Tramma26, Peter Trnka27,28, Selçuk Yüksel29, Maria Rosa Caruso30, Milan Chromek31, Zelal Ekinci32, Giovanni Gambaro33, Jameela A Kari34, Jens König23, Francesca Taroni35, Julia Thumfart22, Francesco Trepiccione36, Louise Winding37, Elke Wühl38, Ayşe Ağbaş39, Anna Belkevich40, Rosa Vargas-Poussou41, Anne Blanchard41, Giovanni Conti42, Olivia Boyer43, Ismail Dursun44, Ayşe Seda Pınarbaşı44, Engin Melek45, Marius Miglinas46, Robert Novo47, Andrew Mallett28,48, Danko Milosevic49, Maria Szczepanska50, Sarah Wente51, Hae Il Cheong52, Rajiv Sinha53, Zoran Gucev54, Stephanie Dufek2, Daniela Iancu2, Robert Kleta1,2, Franz Schaefer38, Detlef Bockenhauer1,2. 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 Gesù 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 Góra, Zielona Góra, Poland. 7. Centre de référence Maladies rénales 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 Rénales 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. Charité Universitätsmedizin Berlin, Berlin, Germany. 23. University Children's Hospital, Münster, 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, İstanbul, Turkey. 33. Fondazione Policlinico A. Gemelli, Università 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 Hôpitaux de Paris, Hôpital Européen 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. 54. Medical School, University Children's Hospital, Skopje, Macedonia.
Abstract
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 clinical data in an online form. RESULTS: Adequate data were collected on 340 patients (29 countries, 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 (±1.16). 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 alkali (mEq/kg/day) was 1.9 (1.2-3.3). Adequate metabolic control (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 filtration 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.
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 clinical data in an online form. RESULTS: Adequate data were collected on 340 patients (29 countries, 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 (±1.16). 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 alkali (mEq/kg/day) was 1.9 (1.2-3.3). Adequate metabolic control (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 filtration 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.
Authors: Jessica M Forero-Delgadillo; Helena Gil-Peña; Marta Alonso-Varela; Fernando Santos Journal: Pediatr Nephrol Date: 2021-04-08 Impact factor: 3.714
Authors: Tilman Jobst-Schwan; Verena Klämbt; Maureen Tarsio; John F Heneghan; Amar J Majmundar; Shirlee Shril; Florian Buerger; Isabel Ottlewski; Boris E Shmukler; Rezan Topaloglu; Seema Hashmi; Farkhanda Hafeez; Francesco Emma; Marcella Greco; Guido F Laube; Hanan M Fathy; Martin Pohl; Jutta Gellermann; Danko Milosevic; Michelle A Baum; Shrikant Mane; Richard P Lifton; Patricia M Kane; Seth L Alper; Friedhelm Hildebrandt Journal: Kidney Int Date: 2019-10-22 Impact factor: 10.612