ADTKD; Medullary cystic kidney disease; Renin associated kidney disease; Familial juvenile hyperuricemic nephropathy; Uromodulin associated kidney disease
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.
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 fluid in the blood to be filtered and returned to the blood.
The abnormal genes that cause the different forms of ADTKD are:
When the cause of ADTKD is not known or a genetic test has not been done, it is called ADTKD-NOS.
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:
Your 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:
The following tests can help diagnose this condition:
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 may be lost, you may 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.
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.
Kidney damage due to ADTKD may lead to the following health problems:
Contact your provider if you have any symptoms of urinary or kidney problems.
Autosomal dominant tubulointerstitial kidney disease is an inherited disorder. It may not be preventable.
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 pubmed.ncbi.nlm.nih.gov/25738250/.
Guay-Woodford LM. Other cystic kidney diseases. In: Johnson RJ, Floege J, Tonelli M, eds. Comprehensive Clinical Nephrology. 7th ed. Philadelphia, PA: Elsevier; 2024:chap 47.
Torres VE, Harris PC. Cystic diseases of the kidney. In: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner and Rector's The Kidney. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 45.BACK TO TOP
Review Date: 8/28/2023
Reviewed By: Walead Latif, MD, Nephrologist and Clinical Associate Professor, Rutgers Medical School, Newark, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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