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

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dc.contributor.author Lopez-Garcia, S.C.
dc.contributor.author Emma, F.
dc.contributor.author Walsh, S.B.
dc.contributor.author Fila, M.
dc.contributor.author Hooman, N.
dc.contributor.author Zaniew, M.
dc.contributor.author Bertholet-Thomas, A.
dc.contributor.author Colussi, G.
dc.contributor.author Burgmaier, K.
dc.contributor.author Levtchenko, E.
dc.contributor.author Sharma, J.
dc.contributor.author Singhal, J.
dc.contributor.author Soliman, N.A.
dc.contributor.author Ariceta, G.
dc.contributor.author Basu, B.
dc.contributor.author Murer, L.
dc.contributor.author Tasic, V.
dc.contributor.author Tsygin, A.
dc.contributor.author Decramer, S.
dc.contributor.author Gil-Peña, H.
dc.contributor.author Koster-Kamphuis, L.
dc.contributor.author La Scola, C.
dc.contributor.author Gellermann, J.
dc.contributor.author Konrad, M.
dc.contributor.author Lilien, M.
dc.contributor.author Francisco, T.
dc.contributor.author Tramma, D.
dc.contributor.author Trnka, P.
dc.contributor.author Yüksel, Selçuk
dc.contributor.author Caruso, M.R.
dc.contributor.author Chromek, M.
dc.contributor.author Ekinci, Z.
dc.contributor.author Gambaro, G.
dc.contributor.author Kari, J.A.
dc.contributor.author König, J.
dc.contributor.author Taroni, F.
dc.contributor.author Thumfart, J.
dc.contributor.author Trepiccione, F.
dc.contributor.author Winding, L.
dc.contributor.author Wühl, E.
dc.contributor.author Aǧbaş, A.
dc.contributor.author Belkevich, A.
dc.contributor.author Vargas-Poussou, R.
dc.contributor.author Blanchard, A.
dc.contributor.author Conti, G.
dc.contributor.author Boyer, O.
dc.contributor.author Dursun, I.
dc.contributor.author Plnarbaşl, A.S.
dc.contributor.author Melek, E.
dc.contributor.author Miglinas, M.
dc.contributor.author Novo, R.
dc.contributor.author Mallett, A.
dc.contributor.author Milosevic, D.
dc.contributor.author Szczepanska, M.
dc.contributor.author Wente, S.
dc.contributor.author Cheong, H.I.
dc.contributor.author Sinha, R.
dc.contributor.author Gucev, Z.
dc.contributor.author Dufek, S.
dc.contributor.author Iancu, D.
dc.contributor.author Kleta, R.
dc.contributor.author Schaefer, F.
dc.contributor.author Bockenhauer, D.
dc.date.accessioned 2020-06-08T12:11:33Z
dc.date.available 2020-06-08T12:11:33Z
dc.date.issued 2019
dc.identifier.issn 09310509 (ISSN)
dc.identifier.uri http://hdl.handle.net/11499/30166
dc.description.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.
dc.language.iso English
dc.publisher Oxford University Press
dc.relation.isversionof 10.1093/ndt/gfy409
dc.rights info:eu-repo/semantics/closedAccess
dc.subject Chronic kidney disease
dc.subject Distal renal tubular acidosis
dc.subject Nephrocalcinosis
dc.subject Nephrolithiasis
dc.subject Sensorineural hearing loss
dc.subject bicarbonate
dc.subject ATP6V1B1 protein, human
dc.subject calcium
dc.subject proton transporting adenosine triphosphate synthase
dc.subject adolescent
dc.subject adult
dc.subject Article
dc.subject ATP6V1B1 gene
dc.subject body height
dc.subject child
dc.subject chronic kidney failure
dc.subject economic aspect
dc.subject estimated glomerular filtration rate
dc.subject female
dc.subject follow up
dc.subject gene
dc.subject gene mutation
dc.subject gross national product
dc.subject hearing impairment
dc.subject human
dc.subject infant
dc.subject kidney calcification
dc.subject kidney function
dc.subject kidney tubule acidosis
dc.subject major clinical study
dc.subject male
dc.subject medical care
dc.subject metabolic regulation
dc.subject mutational analysis
dc.subject nephrolithiasis
dc.subject newborn
dc.subject onset age
dc.subject outcome assessment
dc.subject prevalence
dc.subject primary distal renal tubular acidosis
dc.subject priority journal
dc.subject SLC4A1 gene
dc.subject aged
dc.subject blood
dc.subject cohort analysis
dc.subject complication
dc.subject dna mutational analysis
dc.subject genetic association study
dc.subject genetics
dc.subject glomerulus filtration rate
dc.subject middle aged
dc.subject mutation
dc.subject perception deafness
dc.subject preschool child
dc.subject rare disease
dc.subject urine
dc.subject young adult
dc.subject Acidosis, Renal Tubular
dc.subject Adolescent
dc.subject Adult
dc.subject Aged
dc.subject Bicarbonates
dc.subject Calcium
dc.subject Child
dc.subject Child, Preschool
dc.subject Cohort Studies
dc.subject Deafness
dc.subject DNA Mutational Analysis
dc.subject Female
dc.subject Genetic Association Studies
dc.subject Glomerular Filtration Rate
dc.subject Hearing Loss, Sensorineural
dc.subject Humans
dc.subject Infant
dc.subject Infant, Newborn
dc.subject Male
dc.subject Middle Aged
dc.subject Mutation
dc.subject Rare Diseases
dc.subject Vacuolar Proton-Translocating ATPases
dc.subject Young Adult
dc.title Treatment and long-Term outcome in primary distal renal tubular acidosis
dc.type Article
dc.contributor.authorID 0000-0001-9415-1640
dc.identifier.volume 34
dc.identifier.issue 6
dc.identifier.startpage 981
dc.identifier.endpage 991
dc.relation.publicationCategory Uluslararası Hakemli Dergi
dc.identifier.index Scopus
dc.identifier.index PubMed
dc.identifier.index WOS


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