Lopez-Garcia, Sergio Camilo, Emma, Francesco, Walsh, Stephen B., Fila, Marc, Hooman, Nakysa, Zaniew, Marcin, Bertholet-Thomas, Aurelia, Colussi, Giacomo ORCID: 0000-0001-6133-1899, Burgmaier, Kathrin, Levtchenko, Elena, Sharma, Jyoti, Singhal, Jyoti, Soliman, Neveen A., Ariceta, Gema, Basu, Biswanath, Murer, Luisa, Tasic, Velibor, Tsygin, Alexey, Decramer, Stephane ORCID: 0000-0001-6984-762X, Gil-Pena, Helena, Koster-Kamphuis, Linda ORCID: 0000-0002-9971-995X, La Scola, Claudio ORCID: 0000-0002-2644-7447, Gellermann, Jutta, Konrad, Martin, Lilien, Marc, Francisco, Telma, Tramma, Despoina, Trnka, Peter ORCID: 0000-0002-5584-2622, Yuksel, Selcuk, Caruso, Maria Rosa, Chromek, Milan, Ekinci, Zelal, Gambaro, Giovanni, Kari, Jameela A., Koenig, Jens, Taroni, Francesca, Thumfart, Julia ORCID: 0000-0003-1162-5295, Trepiccione, Francesco, Winding, Louise, Wuehl, Elke, Agbas, Ayse ORCID: 0000-0002-3658-8622, Belkevich, Anna, Vargas-Poussou, Rosa ORCID: 0000-0002-4169-0680, Blanchard, Anne, Conti, Giovanni, Boyer, Olivia ORCID: 0000-0002-3957-1359, Dursun, Ismail, Pinarbasi, Ayse Seda, Melek, Engin, Miglinas, Marius, Novo, Robert, Mallett, Andrew, Milosevic, Danko, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Wente, Sarah, Cheong, Hae Il, Sinha, Rajiv, Gucev, Zoran, Dufek, Stephanie ORCID: 0000-0002-6323-6673, Iancu, Daniela, Kleta, Robert, Schaefer, Franz, Bockenhauer, Detlef ORCID: 0000-0001-5878-941X, Peco-Antic, Amira, Kaur, Amrit, Paglialunga, Antonino, Servais, Aude, Lutovac, Branko, Hoorn, Ewout J., Shasha-Lavsky, Hadas, Harambat, Jerome, Godron-Dubrasquet, Astrid, Buder, Kathrin, Allard, Lise, Patzer, Ludwig, Shumikhina, Marina, Hansen, Matthias, Printza, Nikoleta, Kucuk, Nuran, Beringer, Ortraud, Bhimma, Rajendra ORCID: 0000-0003-3092-7790, Cerkauskiene, Rimante, Klinikos, Santaros, Neuhaus, Thomas J., Stavileci, Valbona, Ulinski, Tim, Dincel, Nida Temizkan and Mohebbi, Nilufar (2019). Treatment and long-term outcome in primary distal renal tubular acidosis. Nephrol. Dial. Transplant., 34 (6). S. 981 - 992. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2385

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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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Lopez-Garcia, Sergio CamiloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Emma, FrancescoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Walsh, Stephen B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fila, MarcUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hooman, NakysaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zaniew, MarcinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bertholet-Thomas, AureliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Colussi, GiacomoUNSPECIFIEDorcid.org/0000-0001-6133-1899UNSPECIFIED
Burgmaier, KathrinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Levtchenko, ElenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sharma, JyotiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Singhal, JyotiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Soliman, Neveen A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ariceta, GemaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Basu, BiswanathUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Murer, LuisaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tasic, VeliborUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tsygin, AlexeyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Decramer, StephaneUNSPECIFIEDorcid.org/0000-0001-6984-762XUNSPECIFIED
Gil-Pena, HelenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Koster-Kamphuis, LindaUNSPECIFIEDorcid.org/0000-0002-9971-995XUNSPECIFIED
La Scola, ClaudioUNSPECIFIEDorcid.org/0000-0002-2644-7447UNSPECIFIED
Gellermann, JuttaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Konrad, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lilien, MarcUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Francisco, TelmaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tramma, DespoinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Trnka, PeterUNSPECIFIEDorcid.org/0000-0002-5584-2622UNSPECIFIED
Yuksel, SelcukUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Caruso, Maria RosaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chromek, MilanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ekinci, ZelalUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gambaro, GiovanniUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kari, Jameela A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Koenig, JensUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Taroni, FrancescaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thumfart, JuliaUNSPECIFIEDorcid.org/0000-0003-1162-5295UNSPECIFIED
Trepiccione, FrancescoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Winding, LouiseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wuehl, ElkeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Agbas, AyseUNSPECIFIEDorcid.org/0000-0002-3658-8622UNSPECIFIED
Belkevich, AnnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vargas-Poussou, RosaUNSPECIFIEDorcid.org/0000-0002-4169-0680UNSPECIFIED
Blanchard, AnneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Conti, GiovanniUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Boyer, OliviaUNSPECIFIEDorcid.org/0000-0002-3957-1359UNSPECIFIED
Dursun, IsmailUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pinarbasi, Ayse SedaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Melek, EnginUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Miglinas, MariusUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Novo, RobertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mallett, AndrewUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Milosevic, DankoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Szczepanska, MariaUNSPECIFIEDorcid.org/0000-0002-6772-1983UNSPECIFIED
Wente, SarahUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cheong, Hae IlUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sinha, RajivUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gucev, ZoranUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dufek, StephanieUNSPECIFIEDorcid.org/0000-0002-6323-6673UNSPECIFIED
Iancu, DanielaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kleta, RobertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schaefer, FranzUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bockenhauer, DetlefUNSPECIFIEDorcid.org/0000-0001-5878-941XUNSPECIFIED
Peco-Antic, AmiraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kaur, AmritUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Paglialunga, AntoninoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Servais, AudeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lutovac, BrankoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoorn, Ewout J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shasha-Lavsky, HadasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Harambat, JeromeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Godron-Dubrasquet, AstridUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buder, KathrinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Allard, LiseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Patzer, LudwigUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shumikhina, MarinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hansen, MatthiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Printza, NikoletaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kucuk, NuranUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beringer, OrtraudUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bhimma, RajendraUNSPECIFIEDorcid.org/0000-0003-3092-7790UNSPECIFIED
Cerkauskiene, RimanteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Klinikos, SantarosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neuhaus, Thomas J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stavileci, ValbonaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ulinski, TimUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dincel, Nida TemizkanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mohebbi, NilufarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-146553
DOI: 10.1093/ndt/gfy409
Journal or Publication Title: Nephrol. Dial. Transplant.
Volume: 34
Number: 6
Page Range: S. 981 - 992
Date: 2019
Publisher: OXFORD UNIV PRESS
Place of Publication: OXFORD
ISSN: 1460-2385
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
CHRONIC KIDNEY-DISEASE; HEARING-LOSS; MUTATIONS; CHILDREN; PREVALENCE; ADOLESCENTS; GUIDELINES; MECHANISM; SUBUNITMultiple languages
Transplantation; Urology & NephrologyMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/14655

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