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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.
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Abstract titles should be brief and reflect the content of the abstract.
Mitochondrial nephropathy is a genetic renal disease characterized by oxidative phosphorylation abnormalities in the mitochondrial respiratory chain in kidney cells, caused by pathogenic gene variants located on mitochondrial or nuclear DNA. Recent advancements in genetic diagnostic techniques and their widespread adoption have led to the identification of various genes associated with mitochondrial nephropathy. We show you a case of mitochondrial nephropathy due to mutation of MT-TL1.
A case report.
Present Illness.The patient's renal dysfunction was progressive, as shown by the following health checkup data: July 2017: Cr 0.98 mg/dL, eGFR 51.2 ml/min/1.73 m*2, Urine Protein (1+) November 2023: Cr 1.75 mg/dL, eGFR 26.2 ml/min/1.73 m*2, Urine Protein (2+) October 2024: Cr 2.10 mg/dL, eGFR 21.2 ml/min/1.73 m*2. Referred to our hospital in November 2024, outpatient care was initiated to evaluate CKD progression. Family history showed a high prevalence of diabetes and hearing loss and a high number of relatives who had died at a young age.
Treatment Course. Besides renal dysfunction, proteinuria persisted with a urinary protein/creatinine ratio >3 g/gCr. A renal biopsy was performed at the end of January 2025 (3 months after referral to our hospital). The pathological diagnosis was focal segmental glomerulosclerosis and tubular atrophy. Light microscopy revealed enlarged podocytes and granular swollen epithelial cells (GSECs). Electron microscopy revealed numerous deformed mitochondria within the podocytes and distal tubular epithelial cells. Next, COX IV staining showed positive staining in podocytes and distal tubular epithelial cells. Mitochondrial nephropathy was strongly suspected based on the patient's strong family history, comorbidities (hearing loss and short stature), and pathological findings. Then genetic diagnosis using urine sediment cells revealed a mutation (m.3243A>G) in the MT-TL1 gene (mtDNA; tRNA-Leu1). A heteroplasmy ratio was 55.9%. Because this gene mutation inhibits taurine synthesis, taurine supplementation therapy was initiated.
The key points of this case report are:nephrologists did not overlook a plenty of proteinuria and performed a renal biopsy even in CKD stage 4; The light microscopic image was not diagnosed secondary FSGS only due to hypertension and smoking and GSECs was detected; Owing to a family history and renal pathological findings, mitochondrial genetic diagnosis was performed. The genetic diagnosis would also contribute to the treatment of this patient's eldest daughter (in her 20s).
