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The European distal renal tubular acidosis registry: a 5-year analysis

Distal renal tubular acidosis (dRTA) is characterized by metabolic acidosis, growth failure, nephrocalcinosis, nephrolithiasis and chronic kidney disease (CKD). Previous retrospective data suggested improved outcome with adequate metabolic control, but confirmation from prospective data is lacking....

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Main Authors: Giaccari, Marta (Author) , Veligratli, Faidra (Author) , Hayes, Wesley (Author) , Topaloglu, Rezan (Author) , Ozdemir, Gulsah (Author) , Ruggiero, Barbara (Author) , Boyer, Olivia (Author) , Knebelmann, Bertrand (Author) , Nedelec, Yann (Author) , Fila, Marc (Author) , Hemery, Floriane (Author) , Atmis, Bahriye (Author) , Bayazit, Aysun Karabay (Author) , Bertholet-Thomas, Aurélia (Author) , Lemoine, Sandrine (Author) , Papizh, Svetlana (Author) , Prikhodina, Larisa (Author) , Aksu, Bağdagül (Author) , La Scola, Claudio (Author) , Eid, Loai (Author) , Güngör, Tülin (Author) , Canpolat, Nur (Author) , Trepiccione, Francesco (Author) , Decramer, Stéphane (Author) , Camilla, Roberta (Author) , Yüksel, Selçuk (Author) , Girisgen, Ilknur (Author) , Schaefer, Franz (Author) , Haeberle, Stefanie (Author) , Levtchenko, Elena (Author) , Haffner, Dieter (Author) , Ariceta, Gema (Author) , Claes, Kathleen (Author) , Koster-Kamphuis, Linda (Author) , Petzold, Friederike (Author) , Harambat, Jérôme (Author) , Godron-Dubrasquet, Astrid (Author) , Oh, Jun (Author) , Burgmaier, Kathrin (Author) , Cerkauskiene, Rimante (Author) , Longo, Germana (Author) , D’Ambrosio, Viola (Author) , Konrad, Martin (Author) , Lungu, Adrian (Author) , Maxted, Drew (Author) , Liebau, Max C (Author) , Bockenhauer, Detlef (Author) , Emma, Francesco (Author)
Format: Article (Journal)
Language:English
Published: 06 March 2026
In: Nephrology, dialysis, transplantation
Year: 2026, Pages: 1-10
ISSN:1460-2385
DOI:10.1093/ndt/gfag051
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1093/ndt/gfag051
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Author Notes:Marta Giaccari, Faidra Veligratli, Wesley Hayes, Rezan Topaloglu, Gulsah Ozdemir, Barbara Ruggiero, Olivia Boyer, Bertrand Knebelmann, Yann Nedelec, Marc Fila, Floriane Hemery, Bahriye Atmis, Aysun Karabay Bayazit, Aurélia Bertholet-Thomas, Sandrine Lemoine, Svetlana Papizh, Larisa Prikhodina, Bağdagül Aksu, Claudio La Scola, Loai Eid, Tülin Güngör, Nur Canpolat, Francesco Trepiccione, Stéphane Decramer, Roberta Camilla, Selçuk Yüksel, Ilknur Girisgen, Franz Schaefer, Stefanie Haeberle, Elena Levtchenko, Dieter Haffner, Gema Ariceta, Kathleen Claes, Linda Koster-Kamphuis, Friederike Petzold, Jérôme Harambat, Astrid Godron-Dubrasquet, Jun Oh, Kathrin Burgmaier, Rimante Cerkauskiene, Germana Longo, Viola D’Ambrosio, Martin Konrad, Adrian Lungu, Drew Maxted, Max C Liebau, Detlef Bockenhauer and Francesco Emma
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Summary:Distal renal tubular acidosis (dRTA) is characterized by metabolic acidosis, growth failure, nephrocalcinosis, nephrolithiasis and chronic kidney disease (CKD). Previous retrospective data suggested improved outcome with adequate metabolic control, but confirmation from prospective data is lacking. Since 2019, the European dRTA registry has collected prospective data on patients with dRTA. Herein we present results of the first data analysis.The registry is hosted as a subregistry of the European Rare Kidney Disease Network (https://www.erknet.org/). In addition to the standard items of growth and plasma creatinine, additional data on plasma and urine biochemistries, genetics, treatment and clinical manifestations were collected from February 2019 through May 2024. Logistic regression analysis was used to identify predictors of CKD and impaired growth.Of the 214 patients enrolled in the registry, only 22% were aged >18 years at the last visit. A genetic diagnosis was documented in 69% of patients. On average, low blood bicarbonate levels (<22 mmol/L) and hypercalciuria were observed in 42% and 25% of patients, respectively, independently of age. Multivariable analysis showed that height standard deviation score (SDS) was positively associated with serum bicarbonate levels (P = .008) and with early diagnosis (P = .005). Further modelling based on odds ratios indicated substantial odds of impaired growth for low serum bicarbonate levels. Patients aged >30 years had significantly lower estimated glomerular filtration rate (P < .001) and the overall prevalence of CKD stage ≥2 was 36%. Patients with SLC4A1 variants were at higher risk of CKD stage >1 (P = .013).Our results in this primarily paediatric cohort highlight the importance of metabolic control and support increasing the blood bicarbonate level for therapy to 24 mmol/L to improve growth. Compared with the overall population, patients with dRTA are at higher risk of CKD from childhood, particularly if they have underlying SLC4A1 variants.
Item Description:Veröffentlicht: 06. März 2026
Gesehen am 17.06.2026
Physical Description:Online Resource
ISSN:1460-2385
DOI:10.1093/ndt/gfag051

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