Clin Nephrol Case Stud. 2026 Feb 22;14:6-10. doi: 10.5414/CNCS111949. eCollection 2026.
ABSTRACT
Nail-patella syndrome (NPS) is an uncommon autosomal dominant condition marked by nail dysplasia, skeletal abnormalities, and variable renal manifestations, resulting from mutations in the LMX1B gene. We report a rare case of a 23-year-old male presenting with nephrotic-range proteinuria, characteristic skeletal manifestations of NPS, and a family history of renal failure. Genetic testing identified a previously unreported heterozygous missense variant in the homeodomain of LMX1B (c.791A>C; p.Gln264Pro), supporting its pathogenicity. The absence of patellar hypoplasia in our patient highlights the phenotypic variability of NPS. This case reinforces the importance of detailed physical examination and targeted genetic testing in diagnosing nephrotic syndromes.
PMID:41782702 | PMC:PMC12955524 | DOI:10.5414/CNCS111949