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

TL;DR

A child presented with early-stage hypertension and later developed kidney disease linked to a genetic condition typically seen in adults.

Contribution

This case highlights an atypical early presentation of ADTKD-UMOD and emphasizes the role of genetic testing in pediatric hypertension.

Findings

The patient showed Stage 2 hypertension at age 6 without initial kidney injury signs.

Genetic testing confirmed UMOD-associated ADTKD after a kidney biopsy.

The case suggests genetic testing should be considered in children with secondary hypertension.

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.

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