Treatment and long-term outcome in primary distal renal tubular acidosis. Issue 6 (18th February 2019)

• Record Type: Journal Article
• Authors: Lopez-Garcia, Sergio Camilo; Emma, Francesco; Walsh, Stephen B; Fila, Marc; Hooman, Nakysa; Zaniew, Marcin; Bertholet-Thomas, Aurélia; Colussi, Giacomo; Burgmaier, Kathrin; Levtchenko, Elena; Sharma, Jyoti; Singhal, Jyoti; Soliman, Neveen A; Ariceta, Gema; Basu, Biswanath; Murer, Luisa; Tasic, Velibor; Tsygin, Alexey; Decramer, Stéphane; Gil-Peña, Helena; Koster-Kamphuis, Linda; La Scola, Claudio; Gellermann, Jutta; Konrad, Martin; Lilien, Marc; Francisco, Telma; Tramma, Despoina; Trnka, Peter; Yüksel, Selçuk; Caruso, Maria Rosa; Chromek, Milan; Ekinci, Zelal; Gambaro, Giovanni; Kari, Jameela A; König, Jens; Taroni, Francesca; Thumfart, Julia; Trepiccione, Francesco; Winding, Louise; Wühl, Elke; Ağbaş, Ayşe; Belkevich, Anna; Vargas-Poussou, Rosa; Blanchard, Anne; Conti, Giovanni; Boyer, Olivia; Dursun, Ismail; Pınarbaşı, Ayşe Seda; Melek, Engin; Miglinas, Marius; Novo, Robert; Mallett, Andrew; Milosevic, Danko; Szczepanska, Maria; Wente, Sarah; Cheong, Hae Il; Sinha, Rajiv; Gucev, Zoran; Dufek, Stephanie; Iancu, Daniela; Kleta, Robert; Schaefer, Franz; Bockenhauer, Detlef;
• Is Part Of: Nephrology dialysis transplantation. Volume 34:Issue 6(2019)
• Page Start: 981
• Page End: 991
• Publication Date: 2019-02-18
• Subjects: chronic kidney disease -- distal renal tubular acidosis -- nephrocalcinosis -- nephrolithiasis -- sensorineural hearing loss; Nephrology -- Periodicals; Hemodialysis -- Periodicals; Kidneys -- Transplantation -- Periodicals; Hemodialysis; Kidneys -- Transplantation; Nephrology; Periodicals; 616.61
• DOI: 10.1093/ndt/gfy409
• Languages: English
• ISSNs: 0931-0509

Abstract

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.