HomeGeneticsConditionAutosomal dominant tubulointerstitial kidney disease-UMOD
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Autosomal dominant tubulointerstitial kidney disease-UMOD
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Autosomal dominant tubulointerstitial kidney disease-UMOD

Autosomal dominant tubulointerstitial kidney disease-UMOD (ADTKD-UMOD) is a genetic disorder characterized by a slow, progressive loss of kidney function that typically leads to kidney failure by middle age.

Overview

ADTKD-UMOD is part of a group of disorders known as autosomal dominant tubulointerstitial kidney disease (ADTKD) that cause a gradual decline in kidney function. In affected individuals, signs and symptoms often emerge in adolescence or early adulthood. Over time, the kidneys lose their ability to remove waste from the body, eventually resulting in kidney failure. This stage requires either dialysis or a kidney transplant. While the age of onset for kidney failure varies, the average age is approximately 45 years.

A common feature of the condition is the inability of the kidneys to effectively remove uric acid from the blood. This leads to high levels of uric acid (hyperuricemia). In about 50 percent of cases, this buildup causes gout—a form of arthritis characterized by sudden, severe joint pain and redness, often starting in the big toe—typically appearing in late adolescence or early adulthood.

Frequency

ADTKD-UMOD is estimated to account for fewer than 1 percent of all kidney failure cases. While the exact prevalence is unknown, it is considered one of the most common forms of kidney disease caused by changes in a single gene.

Causes

The condition is caused by variants (mutations) in the UMOD gene, which provides instructions for making the uromodulin protein. This protein is produced by kidney cells and released into the urine. It is the most common protein found in the urine of healthy individuals and is thought to play a role in transporting minerals like sodium and potassium.

Most UMOD variants alter the structure of the uromodulin protein. These changes typically prevent kidney cells from releasing the protein, leading to an intracellular buildup. This accumulation may trigger the self-destruction (apoptosis) of kidney cells, resulting in kidney disease. The severity of the disease often correlates with the extent to which the variant affects protein function.

Inheritance

This condition is inherited in an autosomal dominant pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disorder.

Frequently Asked Questions

Because the disorder is autosomal dominant, each first‑degree relative has a 50 % chance of carrying the same UMOD variant. Offering targeted genetic testing to siblings, parents, and possibly extended relatives allows early monitoring of kidney function and uric acid levels, which can improve management and inform family planning decisions. Genetic counseling is recommended before testing to discuss implications.
First‑line therapy includes lifestyle measures: stay well‑hydrated (aim for >2 L/day unless contraindicated), limit purine‑rich foods (red meat, organ meats, certain seafood), reduce fructose‑sweetened beverages, and maintain a healthy weight. Pharmacologic options include allopurinol or febuxostat, which inhibit uric acid production; dosing is adjusted for kidney function. Prophylactic colchicine or low‑dose NSAIDs can be added during an acute gout flare, but kidney dosing must be monitored.
Referral for transplant evaluation is recommended when eGFR falls below 20 mL/min/1.73 m² or when symptoms of uremia appear. ADTKD‑UMOD patients generally have outcomes comparable to other causes of end‑stage renal disease; graft survival is good, and the disease does not recur in the transplanted kidney because the mutation is expressed only in native renal tubular cells.
Diagnosis starts with a detailed family history and routine labs showing slowly declining eGFR, hyperuricemia, and often bland urine sediment. Genetic testing for pathogenic variants in the UMOD gene (usually via targeted next‑generation sequencing or a kidney disease panel) provides definitive confirmation. Kidney biopsy is rarely needed unless another disease is suspected.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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