家族性腎疾患の遺伝子診断と腎移植：倫理的問題も含めて

抄録

Chronic kidney disease (CKD) often results from identifiable causes such as diabetes, hypertension, or glomerulonephritis. However, a significant proportion of patients progress to end-stage renal disease (ESRD) without a clear etiology. Recent advancements in genetic research, including gene panel testing, whole exome sequencing (WES), and whole genome sequencing (WGS), have enabled the identification of genetic mutations in previously unexplained CKD cases. This study presents a case of familial kidney disease in a 30-year-old woman with ESRD, exploring the diagnostic process and implications of genetic testing. Genetic analysis later confirmed a novel MYH9 mutation associated with focal segmental glomerulosclerosis (FSGS). This diagnosis highlighted the value of genetic testing in predicting disease recurrence, identifying complications, and guiding family risk assessments. The case underscores the importance of integrating genetic testing into clinical practice while addressing associated ethical and psychological challenges. Comprehensive genetic evaluation, coupled with multidisciplinary collaboration, enhances diagnostic accuracy and supports individualized patient care. Genetic counseling remains pivotal in navigating reproductive and social implications, promoting informed decision-making for patients and families.