Author(s):
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Lopez-Garcia, S.C.; Emma, F.; Walsh, S.B.; Fila, M.; Hooman, N.; Zaniew, M.; Bertholet-Thomas, A.; Colussi, G.; Burgmaier, K.;
Levtchenko, E.N.
; Sharma, J.; Singhal, J.; Soliman, N.A.; Ariceta, G.; Basu, B.; Murer, L.; Tasic, V.; Tsygin, A.; Decramer, S.; Gil-Pena, H.;
Koster-Kamphuis, L.
; La Scola, C.; Gellermann, J.; Konrad, M.; Lilien, M.; Francisco, T.; Tramma, D.; Trnka, P.; Yuksel, S.; Caruso, M.R.; Chromek, M.; Ekinci, Z.; Gambaro, G.; Kari, J.A.; Konig, J.; Taroni, F.; Thumfart, J.; Trepiccione, F.; Winding, L.; Wuhl, E.; Agbas, A.; Belkevich, A.; Vargas-Poussou, R.; Blanchard, A.; Conti, G.; Boyer, O.; Dursun, I.; Pinarbasi, 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.
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Subject:
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Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences Tijdelijke code tbv inlezen publicaties Radboudumc - Alleen voor gebruik door Radboudumc |
Journal title:
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Nephrology, Dialysis, Transplantation
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Abstract:
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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.
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