#3211 Incidence and outcomes of kidney replacement therapy for kidney failure due to inherited tubulopathies in Europe: findings from the ERA Registry

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Abstract Background and Aims When patients with chronic kidney disease (CKD) undergo genetic tests, 40% might be diagnosed with monogenic diseases [1]. Inherited tubulopathies represent a broad subgroup of genetic kidney diseases. They frequently manifest early in life with electrolytes and acid-base disturbances, nephrolithiasis and/or nephrocalcinosis, and sometimes mineral and bone disorders. Approximately 13% of them develop kidney failure [2]. However, data on the incidence and survival of patients receiving kidney replacement therapy (KRT) for kidney failure due to inherited tubulopathies are limited. Some specific cohorts have been described in Europe, but most of these only focused on individual diseases, and follow-up was restricted to conservative treatments. Since 2015, the European Renal Association (ERA) Registry began collecting data on primary renal disease for all individual primary tubulopathy diseases, making it possible to present data on these specific conditions. The aim of this study was to examine the incidence of patients starting KRT for kidney failure due to inherited tubulopathies between 2015 and 2022, overall, and by age, sex and specific tubulopathies. Secondly, we aimed to compare their survival with that of patients with other primary renal diseases. Method We included adult patients who started KRT between 2015 and 2022 in twelve European countries that provided data to the ERA Registry. Patients with inherited tubulopathies were identified using the most recent 2012 PRD codes that were collected since 2015. The control group consisted of KRT patients with other primary renal diseases, who were matched for age, sex and year of KRT initiation. Patient characteristics were examined. Kaplan-Meier and the log-rank test were used for patient survival analyses. Results In total, 169 patients started KRT for kidney failure due to inherited tubulopathies. The majority of these were men (59%) (Fig. 1) and younger than 65 years of age at KRT initiation (79%). The most common conditions were primary hyperoxaluria (23%), medullary sponge kidneys (21%) and renal tubular acidosis (RTA, 10%). A similar top 3 was observed in patients older than 45 years of age and in women. In patients younger than 45 the top 3 consisted of primary hyperoxaluria (32%), tubular disorder as part of inherited metabolic diseases (14%) and Bartter syndrome (12%) in women, and primary hyperoxaluria (26%), medullary sponge kidneys (15%) and Bartter syndrome (10%) in men. The overall incidence of inherited tubulopathies in adult patients increased from 0.24 per million people (pmp) in 2015 to 0.33 pmp in 2019, consistently with the trend of all KRT patients. From 2019 to 2020 there was a slight decline, after which the incidence remained stable around 0.30 pmp. The incidence among men and women showed similar trends over time. After 5 years, the survival rate of patients with inherited tubulopathies was similar to that of the matched control group: 76% (95% CI: 65–83) and 70% (95% CI: 64–74), respectively (P = 0.194, Fig. 2). Conclusion The update to the ERA primary renal disease codes in 2012 made it possible to study the epidemiology of patients on KRT caused by individual inherited tubulopathies, offering valuable insights into a rare and previously overlooked group through the ERA Registry database. The findings of our study indicate that inherited tubulopathies are rarely registered as primary renal diseases. This may be due to tubulopathies representing a very small subgroup of adult patients starting KRT and possibly due to misdiagnosis. After five years of follow-up, their survival was similar to that of other KRT patients with the same age and sex and without inherited tubulopathies.

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