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<p>Autosomal dominant tubulointerstitial kidney disease (ADTKD-<i>UMOD</i>) 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&#xa0;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 <i>UMOD</i>-associated ADTKD. This case demonstrates an unusual presentation of ADTKD<i>-UMOD</i> 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.</p>

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

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  • 发表日期：

    2025年11月10日

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  • Andrew Murray,
  • Monica Cramer

摘要

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.