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During the congress, E-Posters will be accessible to all participants on the congress website 24/7, as well as in the E-poster stations in the congress center.
Preparing your E-Poster
Please review the E-Poster format requirements carefully when preparing your E-Poster. Should your E-Poster not meet the mentioned requirements, it may not be displayed as described above.
E-Poster Submission Deadline
Please prepare and upload your E-Poster no later than March 14, 2026 11.59PM CET. After this date, you will no longer be able to prepare and upload your E-poster and it will not be displayed and accessible on the congress website.
Please follow the instructions below to input your abstract title.
Abstract titles should be brief and reflect the content of the abstract.
Primary Renal Tubulopathies (PRTs) are a group of disorders characterized by impaired tubular function. They are more prevalent and often primary in children compared to adults. However, underdiagnosis is a significant problem due to the heterogeneity of presentations and the absence of specific symptoms, resulting in a "diagnostic blind spot" in nephrology. While there are established guidelines for the diagnosis and treatment of glomerular diseases, a consensus on the management of PRTs remains elusive. This absence of consensus has the potential to adversely impact patient outcomes on a global scale, including in China. A national survey of pediatric nephrologists corroborated these challenges, revealing difficulties in diagnosis, limited use of genetic testing, and poor patient compliance. To address this critical knowledge gap, this study was conducted as the first large-scale, multicenter, cross-sectional investigation in Mainland China to define the spectrum, demographic and genetic characteristics of PRTs in children, providing essential data to guide and improve clinical practice.
This national cross-sectional study involving 1305 children in 56 hospitals from January 1, 2018, to December 31 in mainland China, 2022. Patients less than 18 years of age with a diagnosis of primary renal tubulopathies were enrolled in the study, while those diagnosed with secondary primary renal tubulopathies were excluded.The primary outcomes were the incidence rates of primary renal tubulopathies among pediatric patients across different regions in China, with diagnoses confirmed through clinical symptoms, laboratory tests, and genetic testing. The indicators that were collected or calculated included demographic and clinical data such as gender, age, height, weight, geographic location of medical visits, timing of visits, relevant laboratory test results (e.g., blood and urine electrolytes, serum creatinine, eGFR), and genetic testing findings.
This study included 1305 children in mainland China, 950 of whom were diagnosed with primary renal tubulopathies. The majority of the children were predominantly diagnosed in hospitals in East China (52.0%) and South-Central China (22.7%) (22). The male-to-female ratio of the included patients was 1.65. The age of patients seeking medical attention is predominantly concentrated within the first three years of life (56.7%). The initial consultation was concentrated in July and August (24.7%). The most common primary renal tubulopathies are renal tubular acidosis (31.5%), followed by Bartter syndrome (11.1%), Dent disease (9.7%), Gitelman's syndrome (9.5%) and renal glycosuria (8.7 %). The most common mutated genes found in the genetic tests were SLC12A3 (6.3%), SLC4A1 (4.6%), CLCN5 (4.4%), SLC5A2 (3.0%), PHEX (2.3%), OCRL (1.8%), and CLCNKB (1.6%).
In this study, we found patients with primary tubulopathies having a young age of onset. The most common disease of primary renal tubulopathies was renal tubular acidosis. However, the abnormal indicators and mutated genes vary significantly between specific diseases and still require careful identification and specific analysis by clinicians.
