| Title: |
Treatment and long-term outcome in primary distal renal tubular acidosis |
| Authors: |
Lopez-Garcia, Sergio Camilo; Emma, Francesco; Walsh, Stephen B.; Fila, Marc; Hooman, Nakysa; Zaniew, Marcin; Bertholet-Thomas, Aurelia; Colussi, Giacomo; Burgmaier, Kathrin; Levtchenko, Elena; Sharma, Jyoti; Singhal, Jyoti; Soliman, Neveen A.; Ariceta, Gema; Basu, Biswanath; Murer, Luisa; Tasic, Velibor; Tsygin, Alexey; Decramer, Stephane; Gil-Pena, Helena; Koster-Kamphuis, Linda; La Scola, Claudio; Gellermann, Jutta; Konrad, Martin; Lilien, Marc; Francisco, Telma; Tramma, Despoina; Trnka, Peter; Yuksel, Selcuk; Caruso, Maria Rosa; Chromek, Milan; Ekinci, Zelal; Gambaro, Giovanni; Kari, Jameela A.; Koenig, Jens; Taroni, Francesca; Thumfart, Julia; Trepiccione, Francesco; Winding, Louise; Wuehl, Elke; Agbas, Ayse; Belkevich, Anna; Vargas-Poussou, Rosa; Blanchard, Anne; Conti, Giovanni; Boyer, Olivia; Dursun, Ismail; Pinarbasi, Ayse 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; Peco-Antic, Amira; Kaur, Amrit; Paglialunga, Antonino; Servais, Aude; Lutovac, Branko; Hoorn, Ewout J.; Shasha-Lavsky, Hadas; Harambat, Jerome; Godron-Dubrasquet, Astrid; Buder, Kathrin; Allard, Lise; Patzer, Ludwig; Shumikhina, Marina; Hansen, Matthias; Printza, Nikoleta; Kucuk, Nuran; Beringer, Ortraud; Bhimma, Rajendra; Cerkauskiene, Rimante; Klinikos, Santaros; Neuhaus, Thomas J.; Stavileci, Valbona; Ulinski, Tim; Dincel, Nida Temizkan; Mohebbi, Nilufar |
| Source: |
ISSN:0931-0509 ; ISSN:1460-2385 ; Nephrology Dialysis Transplantation, vol. 34 (6), (981-991. |
| Publisher Information: |
Oxford University Press (OUP) |
| Publication Year: |
2019 |
| Subject Terms: |
Science & Technology; Life Sciences & Biomedicine; Transplantation; Urology & Nephrology; chronic kidney disease; distal renal tubular acidosis; nephrocalcinosis; nephrolithiasis; sensorineural hearing loss; CHRONIC KIDNEY-DISEASE; HEARING-LOSS; MUTATIONS; CHILDREN; PREVALENCE; ADOLESCENTS; GUIDELINES; MECHANISM; SUBUNIT; Acidosis; Renal Tubular; Adolescent; Adult; Aged; Bicarbonates; Calcium; Child; Preschool; Cohort Studies; DNA Mutational Analysis; Deafness |
| Description: |
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. ; sponsorship: ESPN has received an unrestricted grant from Advicenne. (Advicenne) ; status: Published |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
English |
| Relation: |
https://lirias.kuleuven.be/handle/123456789/635618; https://doi.org/10.1093/ndt/gfy409; https://pubmed.ncbi.nlm.nih.gov/30773598 |
| DOI: |
10.1093/ndt/gfy409 |
| Availability: |
https://lirias.kuleuven.be/handle/123456789/635618; https://lirias.kuleuven.be/retrieve/4923bed0-70f3-43a2-93d1-d1ac71ba8cef; https://doi.org/10.1093/ndt/gfy409; https://pubmed.ncbi.nlm.nih.gov/30773598 |
| Rights: |
info:eu-repo/semantics/openAccess ; public |
| Accession Number: |
edsbas.6D8EB4F |
| Database: |
BASE |