AUTHOR=Dong Ting , Luo Jiajia , Sun Tianhong , Wu Huimin , Zhao Qing , Ma Lina , Yang Jing 

TITLE=Case Report: A renal wasting disease caused by a pure deletion of nephrocystin-1

JOURNAL=Frontiers in Pediatrics

VOLUME=Volume 13 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2025.1541411

DOI=10.3389/fped.2025.1541411

ISSN=2296-2360

ABSTRACT=Nephronophthisis is an autosomal recessive disorder associated with the tubular interstitium of the kidney, and can lead to renal failure in children and adolescents. Mutations in the gene encoding nephrocystin-1, NPHP1, are frequently associated with the disease. Here, we describe the case of a child who presented to the clinic with febrile convulsions and who was ultimately diagnosed with nephronophthisis caused by a homozygous deletion of the NPHP1 gene. Alerting pediatricians to the recognition of atypical renal wasting disease and reclarifying the diagnostic value of genetic diagnosis for this disease.