Genetics reference · Nephrology

Autosomal dominant tubulointerstitial kidney disease-UMOD

MedlinePlus Genetics, National Library of Medicine · Retrieved 2026-10-13

Autosomal dominant tubulointerstitial kidney disease-UMOD (ADTKD-UMOD) is part of a group of disorders (collectively called autosomal dominant tubulointerstitial kidney disease or ADTKD) that cause a slow loss of kidney function. In people with ADTKD-UMOD, the signs and symptoms of kidney disease often begin in adolescence or early adulthood. Over time, the kidneys become less able to filter fluids and waste products from the body. People with ADTKD-UMOD eventually…

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Reference details

Inheritance patterns
Autosomal dominant
Other names
ADMCKD2; ADTKD-UMOD; ADTKD1; Autosomal dominant medullary cystic kidney disease 2; Autosomal dominant tubulointerstitial kidney disease 1; Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation; Familial juvenile gouty nephropathy; Familial juvenile hyperuricemic nephropathy 1; FJHN; Glomerulocystic kidney disease with hyperuricemia and isosthenuria; HNFJ1; MCKD2; Medullary cystic kidney disease type 2; UAKD; UMOD kidney disease; UMOD-related ADTKD; UMOD-related autosomal dominant tubulointerstitial kidney disease; Uromodulin-associated kidney disease
NLM review date
2024-08
NLM publication date
2024-08-02

Description

Autosomal dominant tubulointerstitial kidney disease-UMOD (ADTKD-UMOD) is part of a group of disorders (collectively called autosomal dominant tubulointerstitial kidney disease or ADTKD) that cause a slow loss of kidney function. In people with ADTKD-UMOD, the signs and symptoms of kidney disease often begin in adolescence or early adulthood. Over time, the kidneys become less able to filter fluids and waste products from the body. People with ADTKD-UMOD eventually develop kidney failure, which requires either dialysis to remove waste from the blood or a kidney transplant. The age at which people with ADTKD-UMOD develop kidney failure can vary, though the average age is approximately 45 years. People with ADTKD-UMOD typically develop high levels of a waste product called uric acid in their blood. Normally, the kidneys transfer uric acid from the blood into urine, which then removes it from the body. People with ADTKD-UMOD are unable to remove uric acid from the blood effectively. In about 50 percent of people with ADTKD-UMOD, uric acid builds up in the joints and causes a form of arthritis called gout, typically in late adolescence or early adulthood. Gout is characterized by a sudden onset of severe joint pain and redness, often starting in the big toe. Untreated episodes of gout typically worsen over time.

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Source date: 2024-08. Retrieved: 2026-10-13. Text has been organized for reading; this import has not been independently reviewed by a clinician. It is not individualized medical advice.
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