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Nephrology Dialysis TransplantationVolume 34, Issue 6, 1 June 2019, Pages 981-991

Treatment and long-Term outcome in primary distal renal tubular acidosis(Article)(Open Access)

  • Lopez-Garcia, S.C.,
  • Emma, F.,
  • Walsh, S.B.,
  • Fila, M.,
  • Hooman, N.,
  • Zaniew, M.,
  • Bertholet-Thomas, A.,
  • Colussi, G.,
  • Burgmaier, K.,
  • Levtchenko, E.,
  • Sharma, J.,
  • Singhal, J.,
  • Soliman, N.A.,
  • Ariceta, G.,
  • Basu, B.,
  • Murer, L.,
  • Tasic, V.,
  • Tsygin, A.,
  • Decramer, S.,
  • Gil-Peña, H.,
  • Koster-Kamphuis, L.,
  • La Scola, C.,
  • Gellermann, J.,
  • Konrad, M.,
  • Lilien, M.,
  • Francisco, T.,
  • Tramma, D.,
  • Trnka, P.,
  • Yüksel, S.,
  • Caruso, M.R.,
  • Chromek, M.,
  • Ekinci, Z.,
  • Gambaro, G.,
  • Kari, J.A.,
  • König, J.,
  • Taroni, F.,
  • Thumfart, J.,
  • Trepiccione, F.,
  • Winding, L.,
  • Wühl, E.,
  • Aǧbaş, A.,
  • Belkevich, A.,
  • Vargas-Poussou, R.,
  • Blanchard, A.,
  • Conti, G.,
  • Boyer, O.,
  • Dursun, I.,
  • Plnarbaşl, A.S.,
  • Melek, E.,
  • Miglinas, M.,
  • Novo, R.,
  • Mallett, A.,
  • Milosevic, D.,
  • Szczepanska, M.,
  • Wente, S.,
  • Cheong, H.I.,
  • Sinha, R.,
  • Gucev, Z.,
  • Dufek, S.,
  • Iancu, D.,
  • Kleta, R.,
  • Schaefer, F.,
  • Bockenhauer, D.
  • View Correspondence (jump link)
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  • aDepartment of Paediatric Nephrology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, United Kingdom
  • bCentre for Nephrology, University College London, London, United Kingdom
  • cDivision of Nephrology, Bambino Gesu Children's Hospital-IRCCS, Rome, Italy
  • dPediatric Nephrology-CHU Arnaud de Villeneuve, Montpellier University Hospital, Montpellier, France
  • eAli-Asghar Clinical Research Development Center, Iran University of Medical Sciences, Tehran, Iran
  • fDepartment of Pediatrics, University of Zielona Gora, Zielona Gora, Poland
  • gCentre de RCrossed D Sign fCrossed D Sign rence Maladies RCrossed D Sign nales Rares, Bron, France
  • hASST Niguarda, Milan, Italy
  • iDepartment of Pediatrics, University Hospital of Cologne, Cologne, Germany
  • jUniversity Hospital Leuven, Leuven, Belgium
  • kKing Edward Memorial Hospital, Pune, India
  • lDepartment of Pediatrics, Center of Pediatric Nephrology and Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt
  • mHospital Universitario Vall d'Hebron, Barcelona, Spain
  • nDivision of Pediatric Nephrology, NRS Medical College, Kolkata, India
  • oPediatric Nephrology, Dialysis and Transplant Unit, Azienda Ospedaliera and University of Padova, Padova, Italy
  • pUniversity Children's Hospital, Medical School, Skopje, North Macedonia
  • qNational Medical and Research Centre for Children's Health, Moscow, Russian Federation
  • rCentre Hospitalier Universitaire de Toulouse, Service de Nephrologie Pediatrique, Hopital des Enfants, Centre de Reference des Maladies RCrossed D Sign nales Rares du Sud Ouest, Toulouse, France
  • sHospital Universitario Central de Asturias, Oviedo, Spain
  • tRadboud University Medical Centre, Nijmegen, Netherlands
  • uNephrology and Dialysis Unit, Department of Woman, Child and Urological Diseases, Azienda Ospedaliero-Universitaria sant'Orsola-Malpighi, Bologna, Italy
  • vCharitCrossed D Sign Universitätsmedizin Berlin, Berlin, Germany
  • wUniversity Children's Hospital, Münster, Germany
  • xWilhelmina Children's Hospital, University Medical Center, Utrecht, Netherlands
  • yCentro Hospitalar de Lisboa Central, Lisbon, Portugal
  • zFourth Pediatric Department, Aristotle University, Thessaloniki, Greece
  • aaLady Cilento Children's Hospital, Brisbane, Australia
  • abSchool of Medicine, University of Queensland, Brisbane, Australia
  • acDepartment of Pediatric Nephrology, Pamukkale University School of Medicine, Denizli, Turkey
  • adNephrology Unit Azienda Ospedaliera, Papa Giovani XXIII, Bergamo, Italy
  • aeKarolinska Institutet, Lund University, Sweden
  • afGroup Florence Nightingale Hospitals, Crossed D Sign, stanbul, Turkey
  • agFondazione Policlinico A. Gemelli, Università Cattolica Del Sacro Cuore, Rome, Italy
  • ahPediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
  • aiPediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy
  • ajDepartment of Translational Medical Sciences, University of Campania l. Vanvitelli, Naples, Italy
  • akPediatric Department, Lillebaelt Hospital Kolding, Kolding, Denmark
  • alDivision of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University Hospital of Heidelberg, Heidelberg, Germany
  • amHaseki Education and Research Hospital, Istanbul, Turkey
  • anBelarusian State Medical University, Minsk, Belarus
  • aoDepartment of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital EuropCrossed D Signen Georges Pompidou, Paris, France
  • apPediatric Nephrology Unit, AOU Policlinic G Martino, Messina, Italy
  • aqNecker Hospital, Paris, France
  • arFaculty of Medicine, Department of Pediatric Nephrology, Erciyes University, Kayseri, Turkey
  • asCukurova University, Adana, Turkey
  • atNephrology Centre, Santaros Klinikos, Vilnius University, Vilnius, Lithuania
  • auUniversity Hospital of Lille, France
  • avDepartment of Renal Medicine, Royal Brisbane and Women's Hospital, Brisbane, Australia
  • awUniversity Hospital Centre Zagreb, Zagreb, Croatia
  • axDepartment of Pediatrics, SMDZ in Zabrze, SUM in Katowice, Poland
  • ayDepartment of Pediatric Nephrology, Hannover Medical School, Hannover, Germany
  • azDepartment of Pediatrics, Seoul University Children's Hospital, Seoul, South Korea
  • baInstitute of Child Health, Kolkata, India

Abstract

Background. Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-Termoutcome. 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 (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 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. © The Author(s) 2018.

Author keywords

Chronic kidney diseaseDistal renal tubular acidosisNephrocalcinosisNephrolithiasisSensorineural hearing loss

Indexed keywords

EMTREE drug terms:bicarbonateATP6V1B1 protein, humanbicarbonatecalciumproton transporting adenosine triphosphate synthase
EMTREE medical terms:adolescentadultArticleATP6V1B1 genebody heightchildchronic kidney failureeconomic aspectestimated glomerular filtration ratefemalefollow upgenegene mutationgross national producthearing impairmenthumaninfantkidney calcificationkidney functionkidney tubule acidosismajor clinical studymalemedical caremetabolic regulationmutational analysisnephrolithiasisnewbornonset ageoutcome assessmentprevalenceprimary distal renal tubular acidosispriority journalSLC4A1 geneagedbloodcohort analysiscomplicationdna mutational analysisgenetic association studygeneticsglomerulus filtration ratehearing impairmentkidney calcificationkidney tubule acidosismiddle agedmutationperception deafnesspreschool childrare diseaseurineyoung adult
MeSH:Acidosis, Renal TubularAdolescentAdultAgedBicarbonatesCalciumChildChild, PreschoolCohort StudiesDeafnessDNA Mutational AnalysisFemaleGenetic Association StudiesGlomerular Filtration RateHearing Loss, SensorineuralHumansInfantInfant, NewbornMaleMiddle AgedMutationNephrocalcinosisRare DiseasesVacuolar Proton-Translocating ATPasesYoung Adult

Chemicals and CAS Registry Numbers:

bicarbonate, 144-55-8, 71-52-3; calcium, 7440-70-2, 14092-94-5; proton transporting adenosine triphosphate synthase, 37205-63-3;

ATP6V1B1 protein, human; Bicarbonates; Calcium; Vacuolar Proton-Translocating ATPases

  • ISSN: 09310509
  • CODEN: NDTRE
  • Source Type: Journal
  • Original language: English
  • DOI: 10.1093/ndt/gfy409
  • PubMed ID: 30773598
  • Document Type: Article
  • Publisher: Oxford University Press

  Bockenhauer, D.; Department of Paediatric Nephrology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, United Kingdom;
© Copyright 2019 Elsevier B.V., All rights reserved.

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