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The importance of genetics and genomics in general nephrology has rapidly ascended within the last decade. While the genetic literacy of all nephrologists must improve, there is a particular need to develop the next generation of leaders and educators in nephrology genetics. In this review, we summarize how nephrology genetics could fit into the nephrology landscape and discuss components of a nephrology genetics training program. We outline potential objectives and educational content for a nephrology genetics curriculum. Finally, we identify logistical challenges and potential solutions when educating the next-generation expert in nephrology genetics. Semin Nephrol 36:x-xx © 20XX Elsevier Inc. All rights reserved.
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http://dx.doi.org/10.1016/j.semnephrol.2025.151648 | DOI Listing |
Intern Med
September 2025
Division of Nephrology, Department of Internal Medicine, Jichi Medical University, Japan.
Intern Med
September 2025
Department of Gastroenterology and Nephrology, Tottori University Hospital, Japan.
The clinical manifestations of atypical hemolytic uremic syndrome (aHUS) vary depending on the genetic background. A 19-year-old man with the C3 p.Asp1115Asn variant experienced 2 episodes of recurrent aHUS following respiratory tract infections caused by influenza and COVID-19.
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September 2025
Guy's and St Thomas' Hospitals NHS Trust, London, England, UK.
Autosomal recessive renal tubular dysgenesis (RTD) is a rare genetic disorder caused by defects in the renin-angiotensin system, with the most common outcomes being foetal or neonatal death from renal failure, pulmonary hypoplasia and/or refractory arterial hypotension. A small proportion of patients survive past the neonatal period. We present the case of a toddler with RTD due to compound heterozygous variants in the gene that codes for ACE, who has not required renal replacement therapy to date and in whom fludrocortisone has achieved electrolyte and acid/base balance.
View Article and Find Full Text PDFBrain
September 2025
Departamento de Fisiología, Facultad de Medicina, Universidad de Granada, 18016 Granada, Spain.
Primary coenzyme Q (CoQ) deficiency is a mitochondrial disorder with variable clinical presentation and limited response to standard CoQ10 supplementation. Recent studies suggest that 4-hydroxybenzoic acid (4-HBA), a biosynthetic precursor of CoQ, may serve as a substrate enhancement treatment in cases caused by pathogenic variants in COQ2, a gene encoding a key enzyme in CoQ biosynthesis. However, it remains unclear whether 4-HBA is required throughout life to maintain health, whether it offers advantages over CoQ10 treatment, and whether these findings are translatable to humans.
View Article and Find Full Text PDFNephrol Dial Transplant
September 2025
Department of Pediatrics, RWTH Aachen University Hospital, Aachen, Germany.
Adolescents and young adults with chronic kidney disease (CKD), particularly those with genetic kidney diseases, face unique challenges as they transition from pediatric to adult nephrology care. This period is marked not only by changes in healthcare providers but also by significant developmental, psychosocial, and medical complexities. In response, the ERA Working Group on Genes and Kidney and the ESPN Working Group on Inherited Kidney Diseases have collaborated to develop practical advice for healthcare professionals involved in transition care across Europe and beyond.
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