TY - JOUR
T1 - Treatment and long-term outcome in primary distal renal tubular acidosis
AU - European dRTA Consortium
AU - Lopez-Garcia, Sergio Camilo
AU - Emma, Francesco
AU - Walsh, Stephen B
AU - Fila, Marc
AU - Hooman, Nakysa
AU - Zaniew, Marcin
AU - Bertholet-Thomas, Aurélia
AU - Colussi, Giacomo
AU - Burgmaier, Kathrin
AU - Levtchenko, Elena
AU - Sharma, Jyoti
AU - Singhal, Jyoti
AU - Soliman, Neveen A
AU - Ariceta, Gema
AU - Basu, Biswanath
AU - Murer, Luisa
AU - Tasic, Velibor
AU - Tsygin, Alexey
AU - Decramer, Stéphane
AU - Gil-Peña, Helena
AU - Koster-Kamphuis, Linda
AU - La Scola, Claudio
AU - Gellermann, Jutta
AU - Konrad, Martin
AU - Lilien, Marc
AU - Francisco, Telma
AU - Tramma, Despoina
AU - Trnka, Peter
AU - Yüksel, Selçuk
AU - Caruso, Maria Rosa
AU - Chromek, Milan
AU - Ekinci, Zelal
AU - Gambaro, Giovanni
AU - Kari, Jameela A
AU - König, Jens
AU - Taroni, Francesca
AU - Thumfart, Julia
AU - Trepiccione, Francesco
AU - Winding, Louise
AU - Wühl, Elke
AU - Ağbaş, Ayşe
AU - Belkevich, Anna
AU - Vargas-Poussou, Rosa
AU - Blanchard, Anne
AU - Conti, Giovanni
AU - Boyer, Olivia
AU - Dursun, Ismail
AU - Pınarbaşı, Ayşe Seda
AU - Melek, Engin
AU - Miglinas, Marius
N1 - © The Author(s) 2019. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.
PY - 2019/2/18
Y1 - 2019/2/18
N2 - 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.
AB - 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.
U2 - 10.1093/ndt/gfy409
DO - 10.1093/ndt/gfy409
M3 - Article
C2 - 30773598
JO - Nephrology Dialysis Transplantation
JF - Nephrology Dialysis Transplantation
SN - 0931-0509
ER -