Treatment and long-term outcome in primary distal renal tubular acidosis

Sergio Camilo Lopez-Garcia; Francesco Emma; Stephen B Walsh; Marc Fila; Nakysa Hooman; Marcin Zaniew; Aurélia Bertholet-Thomas; Giacomo Colussi; Kathrin Burgmaier; Elena Levtchenko; Jyoti Sharma; Jyoti Singhal; Neveen A Soliman; Gema Ariceta; Biswanath Basu; Luisa Murer; Velibor Tasic; Alexey Tsygin; Stéphane Decramer; Helena Gil-Peña; Linda Koster-Kamphuis; Claudio La Scola; Jutta Gellermann; Martin Konrad; Marc Lilien; Telma Francisco; Despoina Tramma; Peter Trnka; Selçuk Yüksel; Maria Rosa Caruso; Milan Chromek; Zelal Ekinci; Giovanni Gambaro; Jameela A Kari; Jens König; Francesca Taroni; Julia Thumfart; Francesco Trepiccione; Louise Winding; Elke Wühl; Ayşe Ağbaş; Anna Belkevich; Rosa Vargas-Poussou; Anne Blanchard; Giovanni Conti; Olivia Boyer; Ismail Dursun; Ayşe Seda Pınarbaşı; Engin Melek; Marius Miglinas; Robert Novo; Andrew Mallett; Danko Milosevic; Maria Szczepanska; Sarah Wente; Hae Il Cheong; Rajiv Sinha; Zoran Gucev; Stephanie Dufek; Daniela Iancu; Robert Kleta; Franz Schaefer; Detlef Bockenhauer; European dRTA Consortium

doi:10.1093/ndt/gfy409

Back

Treatment and long-term outcome in primary distal renal tubular acidosis

Journal article

Peer reviewed

Treatment and long-term outcome in primary distal renal tubular acidosis

Sergio Camilo Lopez-Garcia, Francesco Emma, Stephen B Walsh, Marc Fila, Nakysa Hooman, Marcin Zaniew, Aurélia Bertholet-Thomas, Giacomo Colussi, Kathrin Burgmaier, Elena Levtchenko, …

Nephrology, dialysis, transplantation, Vol.34(6), pp.981-991

01/06/2019

DOI: https://doi.org/10.1093/ndt/gfy409

PMID: 30773598

Abstract

Acidosis, Renal Tubular - complications

Acidosis, Renal Tubular - genetics

Acidosis, Renal Tubular - therapy

Adolescent

Adult

Aged

Bicarbonates - blood

Calcium - urine

Child

Child, Preschool

Cohort Studies

Deafness - complications

Deafness - genetics

Deafness - therapy

DNA Mutational Analysis

Female

Genetic Association Studies

Glomerular Filtration Rate

Hearing Loss, Sensorineural - complications

Hearing Loss, Sensorineural - genetics

Hearing Loss, Sensorineural - therapy

Humans

Infant

Infant, Newborn

Male

Middle Aged

Mutation

Nephrocalcinosis - complications

Nephrocalcinosis - genetics

Nephrocalcinosis - therapy

Rare Diseases - complications

Vacuolar Proton-Translocating ATPases - genetics

Young Adult

Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-term outcome. We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data in an online form. 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. 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.

Metrics

1 Record Views

See more details

Details

Title: Treatment and long-term outcome in primary distal renal tubular acidosis
Creators - without role: Sergio Camilo Lopez-Garcia - Centre for Nephrology, University College London, London, UK
Francesco Emma - Bambino Gesù Children's Hospital
Stephen B Walsh - Centre for Nephrology, University College London, London, UK
Marc Fila - University Hospital of Montpellier
Nakysa Hooman - Iran University of Medical Sciences
Marcin Zaniew - University of Zielona Góra
Aurélia Bertholet-Thomas - Centre de référence Maladies rénales rares, Bron, France
Giacomo Colussi - ASST Niguarda, Milan, Italy
Kathrin Burgmaier - University Hospital Cologne
Elena Levtchenko - University Hospital Leuven, Leuven, Belgium
Jyoti Sharma - King Edward Memorial Hospital
Jyoti Singhal - King Edward Memorial Hospital
Neveen A Soliman - Cairo University
Gema Ariceta - Hospital Universitario Vall d'Hebron, Barcelona, Spain
Biswanath Basu - Division of Pediatric Nephrology, NRS Medical College, Kolkata, India
Luisa Murer - Pediatric Nephrology, Dialysis and Transplant Unit, Azienda Ospedaliera & University of Padova, Padova, Italy
Velibor Tasic - University Children's Hospital, Medical School, Skopje, Macedonia
Alexey Tsygin - National Medical and Research Centre for Children's Health, Moscow, Russia
Stéphane Decramer - Centre Hospitalier Universitaire de Toulouse
Helena Gil-Peña - Hospital Universitario Central de Asturias, Oviedo, Spain
Linda Koster-Kamphuis - Radboud University Medical Centre, Nijmegen, The Netherlands
Claudio La Scola - Nephrology and Dialysis Unit, Department of Woman, Child and Urological Diseases, Azienda Ospedaliero-Universitaria Sant'Orsola-Malpighi, Bologna, Italy
Jutta Gellermann - Charité - Universitätsmedizin Berlin
Martin Konrad - University Children's Hospital, Münster, Germany
Marc Lilien - University Medical Center Utrecht
Telma Francisco - Centro Hospitalar de Lisboa Central
Despoina Tramma - Aristotle University of Thessaloniki
Peter Trnka - University of Queensland
Selçuk Yüksel - Pamukkale University
Maria Rosa Caruso - Nephrology Unit Azienda Ospedaliera, Papa Giovani XXIII, Bergamo, Italy
Milan Chromek - Lund University
Zelal Ekinci - Florence
Giovanni Gambaro - Fondazione Policlinico A. Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy
Jameela A Kari - King Abdulaziz University
Jens König - University Children's Hospital, Münster, Germany
Francesca Taroni - Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Julia Thumfart - Charité - Universitätsmedizin Berlin
Francesco Trepiccione - Department of Translational Medical Sciences, University of Campania "L. Vanvitelli", Naples, Italy
Louise Winding - Lillebaelt Hospital
Elke Wühl - University Hospital Heidelberg
Ayşe Ağbaş - Haseki Education and Research Hospital, Istanbul, Turkey
Anna Belkevich - Belarusian State Medical University
Rosa Vargas-Poussou - Hôpital Européen Georges-Pompidou
Anne Blanchard - Hôpital Européen Georges-Pompidou
Giovanni Conti - Pediatric Nephrology Unit, AOU Policlinic G Martino, Messina, Italy
Olivia Boyer - Necker Hospital, Paris, France
Ismail Dursun - Erciyes University
Ayşe Seda Pınarbaşı - Erciyes University
Engin Melek - Cukurova University
Marius Miglinas - Vilnius University
Robert Novo - University Hospital of Lille, France
Andrew Mallett - Royal Brisbane and Women's Hospital
Danko Milosevic - University Hospital Centre Zagreb
Maria Szczepanska - Department of Pediatrics, SMDZ in Zabrze, SUM in Katowice, Poland
Sarah Wente - Medizinische Hochschule Hannover
Hae Il Cheong - Department of Pediatrics, Seoul University Children's Hospital, Seoul, Korea
Rajiv Sinha - Institute of Child Health
Zoran Gucev - Medical School, University Children's Hospital, Skopje, Macedonia
Stephanie Dufek - University College London
Daniela Iancu - University College London
Robert Kleta - University College London
Franz Schaefer - University Hospital Heidelberg
Detlef Bockenhauer - University College London
European dRTA Consortium
Publication Details: Nephrology, dialysis, transplantation, Vol.34(6), pp.981-991
Identifiers: 9940665708331
Academic Unit: King Abdulaziz University
Language: English
Resource Type: Journal article