Nalazite se na CroRIS probnoj okolini. Ovdje evidentirani podaci neće biti pohranjeni u Informacijskom sustavu znanosti RH. Ako je ovo greška, CroRIS produkcijskoj okolini moguće je pristupi putem poveznice www.croris.hr
izvor podataka: crosbi !

Treatment and long-term outcome in primary distal Renal Tubular Acidosis (CROSBI ID 264178)

Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija

Lopez-Garcia, Sergio Camilo ; Emma, Francesco ; Walsh, Stephen ; Fila, Marc ; Hooman, Nakysa ; Zaniew, Marcin ; Bertholet-Thomas, Aurelia ; Colussi, Giacomo ; Burgmaier, Kathrin ; Levtchenko, Elena et al. Treatment and long-term outcome in primary distal Renal Tubular Acidosis // Nephrology, dialysis, transplantation, 1 (2019), 1-11. doi: 10.1093/ndt/gfy409

Podaci o odgovornosti

Lopez-Garcia, Sergio Camilo ; Emma, Francesco ; Walsh, Stephen ; Fila, Marc ; Hooman, Nakysa ; Zaniew, Marcin ; Bertholet-Thomas, Aurelia ; Colussi, Giacomo ; Burgmaier, Kathrin ; Levtchenko, Elena ; Sharma, Jyoti ; Singhal, Jyoti ; Soliman, Neven ; Ariceta, Gemma, Basu, Biswanath ; Murer, Luisa ; Tasic, Velibor ; Tsygin, Alexey ; Decramer, Stephane ; Gil-Peña, Helena ; Koster-Kamphuis, Linda ; La Scola, Claudio ; Gellermann Jutta ; Konrad, Martin ; Lilien, Marc ; Francisco, Telma ; Tramma, Despoina ; Trnka, Peter ; Yüksel, Selcuk ; Caruso, Maria Rosa ; Chromek, Milan ; Ekinci, Zelal ; Gambaro, Giovanni ; Jameela, Kari ; König, Jens ; Taroni, Francesca ; Thumfart, Julia ; Trepiccione, Francesco ; Winding, Louise ; Wüh, Elke ; Ağbaş, Ayse ; Belkevich, Anna ; Vargas-Poussou, Rosa ; Blanchard, Anne ; Conti, Giovanni ; Boyer, Olivia ; Dursun, Ismail ; Pınarbaşı, 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.

engleski

Treatment and long-term outcome in primary distal Renal Tubular Acidosis

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 (61.16). 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.

chronic kidney disease ; distal renal tubular acidosis ; nephrocalcinosis ; nephrolithiasis ; sensorineural hearing loss

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

Podaci o izdanju

1

2019.

1-11

objavljeno

0931-0509

1460-2385

10.1093/ndt/gfy409

Povezanost rada

Kliničke medicinske znanosti

Poveznice
Indeksiranost