ArticleFrontiers in medicine2025
Renal insufficiency caused by
Article in Frontiers in medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Chronic kidney disease (CKD) is a globally prevalent condition characterized by high morbidity and a progressive course that often culminates in end-stage renal disease (ESRD), necessitating dialysis or kidney transplantation. In recent years, genetic factors have received increasing attention in the pathogenesis of CKD, particularly among patients with unexplained renal dysfunction. Genetic screening has emerged as a valuable diagnostic tool. Mutations in the Case presentation: We report a case of a 21-year-old male who developed proteinuria at the age of 15 without an apparent cause. Over the subsequent 6 years, his serum creatinine levels gradually increased, ultimately progressing to ESRD, accompanied by complications such as hypertension and secondary hyperparathyroidism. Imaging studies revealed bilateral renal cysts and a congenital bicuspid aortic valve. Whole-exome sequencing identified compound heterozygous mutations in Conclusion: This study presents a severe case of renal dysfunction attributed to mutations in the
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