Work

An unusual presentation of UMOD-associated autosomal dominant tubulointerstitial kidney disease in a pediatric patient

Year: 2025

Type: article

Abstract: Autosomal dominant tubulointerstitial kidney disease (ADTKD-UMOD) is a chronic and progressive kidney disease that typically presents with elevated serum creatinine and gout between the second and fourth decades of life. Our patient presented at age 6 years with persistent headaches and nosebleeds that began the year prior to presentation with nephrology. Stage 2 hypertension prompted her nephrology referral from the pediatrician. Laboratory evaluation was not initially remarkable for significant elevation in creatinine as would be expected; however, her creatinine level did eventually rise to a concerning level after months of antihypertensive therapy. Kidney biopsy was remarkable for findings consistent with UMOD-associated ADTKD. This case demonstrates an unusual presentation of ADTKD-UMOD with Stage 2 hypertension at an early age in the absence of significant kidney injury and highlights a further emerging role for genetic testing in suspected secondary hypertension.

Source: Pediatric Nephrology

DOI: 10.1007/s00467-025-07024-5

Authors: Andrew Murray, Monica Cramer

Institutions: Prisma Health, University of South Carolina

Language: English

Topic: Genetic and Kidney Cyst Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,337