ADTKD is caused by mutations in certain genes. These gene problems are passed down through families (inherited) in an autosomal dominant pattern. This means the abnormal gene is needed from only one parent in order to inherit the disease. Often, many family members have the disease.
With all forms of ADTKD, as the disease progresses, the kidney tubules are damaged. These are the structures in the kidneys that allow most water in the blood to be filtered and returned to the blood.
Their abnormal genes that cause the different forms of ADTKD are:
- UMOD gene -- causes ADTKD-UMOD, or uromodulin kidney disease
- MUC1 gene -- causes ADTKD-MUC1, or mucin-1 kidney disease
- REN gene -- causes ADTKD-REN, or familial juvenile hyperuricemic nephropathy type 2 (FJHN2)
- HNF1B gene -- causes ADTKD-HNF1B, or maturity-onset diabetes mellitus of the young type 5 (MODY5)
When the cause of ADTKD is not known or a genetic test has not been done, it is called ADTKD-NOS.
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a group of inherited conditions that affect the tubules of the kidneys, causing the kidneys to gradually lose their ability to work.
Exams and Tests
The health care provider will examine you and ask about your symptoms. You'll likely be asked if other family members have ADTKD or kidney disease.
Tests that may be done include:
- 24-hour urine volume and electrolytes
- Blood urea nitrogen (BUN)
- Complete blood count (CBC)
- Creatinine blood test
- Creatinine clearance -- blood and urine
- Uric acid blood test
- Urine specific gravity (will be low)
The following tests can help diagnose this condition:
The age at which people with ADTKD reach end-stage kidney disease varies, depending on the form of the disease. It can be as young as in the teens or in older adulthood. Lifelong treatment may control the symptoms of chronic kidney disease.
ADTKD may lead to the following health problems:
- Bone weakening and fractures
- Cardiac tamponade
- Changes in glucose metabolism
- Congestive heart failure
- End-stage kidney disease
- Gastrointestinal bleeding, ulcers
- Hemorrhage (excessive bleeding)
- High blood pressure
- Hyponatremia (low blood sodium level)
- Hyperkalemia (too much potassium in the blood), especially with end-stage kidney disease
- Hypokalemia (too little potassium in the blood)
- Menstrual problems
- Peripheral neuropathy
- Platelet dysfunction with easy bruising
- Skin color changes
Medullary cystic kidney disease is an inherited disorder. It may not be preventable.
Early in the disease, depending on the form of ADTKD, symptoms may include:
As the disease worsens, symptoms of kidney failure may develop, which include:
- Easy bruising or bleeding
- Fatigue, weakness
- Frequent hiccups
- Increased skin color (skin may appear yellow or brown)
- Malaise (general ill feeling)
- Muscle twitching or cramps
- Pale skin
- Reduced sensation in the hands, feet, or other areas
- Vomiting blood or blood in the stool
- Weight loss
- Confusion, decreased alertness, coma
There is no cure for ADTKD. At first, treatment focuses on controlling symptoms, reducing complications, and slowing the progression of the disease. Because so much water and salt are lost, you will need to follow instructions on drinking plenty of fluids and taking salt supplements to avoid dehydration.
As the disease progresses, kidney failure develops. Treatment may involve taking medicines and diet changes, limiting foods containing phosphorus and potassium. You may need dialysis and a kidney transplant.
When to Contact a Medical Professional
Call for an appointment with your provider if you have any symptoms of urinary or kidney problems.
Bleyer AJ, Kidd K, Živná M, Kmoch S. Autosomal dominant tubulointerstitial kidney disease. Adv Chronic Kidney Dis. 2017;24(2):86-93. PMID: 28284384
Eckardt KU, Alper SL, Antignac C, et al. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--a KDIGO consensus report. Kidney Int. 2015;88(4):676-683. PMID: 25738250
Torres VE, Harris PC. Cystic diseases of the kidney. In: Skorecki K, Chertow GM, Marsden PA, Taal MW, Yu ASL, eds. Brenner and Rector's The Kidney. 10th ed. Philadelphia, PA: Elsevier; 2016:chap 46.