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

Lopez-Garcia, SC; Emma, F; Walsh, SB; Fila, M; Hooman, N; Zaniew, M; Bertholet-Thomas, A; ... Bockenhauer, D; + view all (2019) Treatment and long-term outcome in primary distal renal tubular acidosis. Nephrology Dialysis Transplantation , 34 (6) pp. 981-991. 10.1093/ndt/gfy409. Green open access

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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.

Type: Article
Title: Treatment and long-term outcome in primary distal renal tubular acidosis
Open access status: An open access version is available from UCL Discovery
DOI: 10.1093/ndt/gfy409
Publisher version: https://doi.org/10.1093/ndt/gfy409
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: chronic kidney disease, distal renal tubular acidosis, nephrocalcinosis, nephrolithiasis, sensorineural hearing loss
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Renal Medicine
URI: https://discovery.ucl.ac.uk/id/eprint/10064148
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