ArticlePediatric nephrology (Berlin, Germany)2026
An unusual presentation of UMOD-associated autosomal dominant tubulointerstitial kidney disease in a pediatric patient.
Article in Pediatric nephrology (Berlin, Germany), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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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