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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.
Unexplained kidney failure warrants a thorough etiological evaluation, particularly when accompanied by extrarenal manifestations such as neurodevelopmental or cardiac abnormalities. The TRIM8 gene encodes a protein involved in diverse cellular regulatory processes, and pathogenic variants may lead to premature termination of translation, resulting in a rare disorder known as neuro-renal syndrome. This syndrome is typically characterized by epilepsy, psychomotor retardation, and focal segmental glomerulosclerosis. Hypertrophic cardiomyopathy (HCM) represents the second most common form of childhood cardiomyopathy and is associated with significant morbidity and mortality. Mutations in the MYH7 gene, encoding the β-cardiac myosin heavy chain, are also implicated in myosin storage myopathy (MSM), a heterogeneous condition encompassing both cardiac and skeletal myopathies depending on the affected domains.
This is a case report study.
We report the case of a 14-year-old girl who presented with end-stage kidney disease. At presentation, she exhibited pallor, epilepsy, intellectual disability, motor palsy, and a history of hypertrophic cardiomyopathy for which she had undergone ablation one year earlier. She was anuric, necessitating initiation of continuous ambulatory peritoneal dialysis (CAPD). Renal ultrasonography revealed bilaterally small, echogenic kidneys. Following initiation of CAPD, her metabolic condition stabilized, but she developed recurrent anemia requiring red blood cell transfusions every three weeks. As a kidney biopsy could not be performed, whole-exome sequencing (WES) was undertaken to investigate the underlying etiology. WES identified two pathogenic variants: TRIM8 (NM_030912.3:c.1267C>T, NP_112174.2:p.Gln423Ter) and MYH7(NM_000257.4:c.2200C>G, NP_000248.2:p.Gln734Glu), providing a molecular explanation for her kidney failure, neurological abnormalities, and cardiomyopathy.
This case highlights the critical role of genetic testing in elucidating the etiology of kidney failure of unknown origin, particularly when accompanied by multisystem involvement. The coexistence of TRIM8 and MYH7mutations in this patient underscores the complexity of genotype–phenotype correlations and expands the clinical spectrum of neuro-renal and cardiomyopathic syndromes.
