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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.
We encountered a patient with renal tubulogenesis defect carrying compound heterozygous variants in the angiotensinogen (AGT) gene: a nonsense mutation (c.604C>T) and a frameshift mutation (c.1290delT). The patient, an 18-year-old woman, exhibited a marked discrepancy between plasma renin activity (<0.1 ng/mL/hr) and active renin concentration (135,000 pg/mL). Plasma angiotensin I, angiotensin II, and aldosterone levels were all markedly reduced. This study aimed to investigate the effects of these two AGT variants on AGT protein expression and cell viability.
The patient was referred to our department for transition to adult medical care and has since been followed regularly. To assess the molecular effects of the AGT mutations, human proximal tubular epithelial cells (HK-2) were transfected with human AGT siRNA and expression vectors encoding empty, wild-type AGT, AGT with the c.604C>T mutation, or AGT with the c.1290delT mutation. AGT expression was analyzed by Western blotting and immunofluorescence. Cell viability was assessed using the WST-8 assay.
Clinically, the patient’s kidney function changed depending on water intake, with an estimated glomerular filtration rate (eGFR) of approximately 30 mL/min/1.73 m² and systolic blood pressure consistently below 100 mmHg. After starting full-time employment, urination frequency decreased and serum potassium levels increased, prompting initiation of fludrocortisone acetate (0.05 mg/day). Following treatment, serum potassium stabilized within the normal range, and renal function remained stable without significant changes in blood pressure or urinary potassium excretion. In HK-2 cells, AGT knockdown by siRNA reduced cell viability, which was restored by wild-type AGT expression but not by either mutant form. Western blotting of cell lysates revealed that the c.604C>T variant produced a shorter AGT protein, whereas the c.1290delT variant protein was undetectable. Both mutant AGT proteins were absent in culture supernatants. Immunofluorescence revealed that the c.604C>T variant accumulated in the Golgi apparatus, while the c.1290delT variant was absent.
Fludrocortisone acetate effectively maintained blood pressure and electrolyte balance in this patient with compound AGT mutations. The c.604C>T nonsense and c.1290delT frameshift mutations each impaired AGT protein expression via distinct mechanisms, resulting in defective AGT secretion and decreased tubular cell viability. These findings suggest that AGT deficiency may directly contribute to renal tubulogenesis defects and renal dysfunction through disruption of both systemic and local renin–angiotensin system activity.
