Autosomal Dominant Tubulointerstitial Kidney Disease Overview
Learn About Autosomal Dominant Tubulointerstitial 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; Medullary cystic kidney disease; Renin associated kidney disease; Familial juvenile hyperuricemic nephropathy; Uromodulin associated kidney disease
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:
- 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.
Early in the disease, depending on the form of ADTKD, symptoms may include:
- Excessive urination (polyuria)
- Gout
- Salt cravings
- Urination at night (nocturia)
- Weakness
As the disease worsens, symptoms of kidney failure may develop, which include:
- Easy bruising or bleeding
- Fatigue, weakness
- Frequent hiccups
- Headache
- Increased skin color (skin may appear yellow or brown)
- Itching
- Malaise (general ill feeling)
- Muscle twitching or cramps
- Nausea
- Pale skin
- Reduced sensation in the hands, feet, or other areas
- Vomiting blood or blood in the stool
- Weight loss
- Seizures
- 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 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.
Childrens Health Care Associates Inc
Sandra Amaral is a Pediatric Nephrologist and a Nephrologist in Philadelphia, Pennsylvania. Dr. Amaral and is rated as an Advanced provider by MediFind in the treatment of Autosomal Dominant Tubulointerstitial Kidney Disease. Her top areas of expertise are Posterior Urethral Valves, Medullary Sponge Kidney, Nephronophthisis, Autosomal Dominant Tubulointerstitial Kidney Disease, and Kidney Transplant.
Childrens Health Care Associates Inc
Christopher Larosa is a Pediatric Nephrologist and a Nephrologist in Philadelphia, Pennsylvania. Dr. Larosa has been practicing medicine for over 21 years and is rated as an Experienced provider by MediFind in the treatment of Autosomal Dominant Tubulointerstitial Kidney Disease. His top areas of expertise are Alport Syndrome, Posterior Urethral Valves, End-Stage Renal Disease (ESRD), Nephronophthisis, and Kidney Transplant.
Childrens Health Care Associates Inc
Benjamin Laskin is a Pediatric Nephrologist and a Nephrologist in Philadelphia, Pennsylvania. Dr. Laskin and is rated as an Experienced provider by MediFind in the treatment of Autosomal Dominant Tubulointerstitial Kidney Disease. His top areas of expertise are Renal Tubular Acidosis, Primary Tubular Proximal Acidosis, Proximal Renal Tubular Acidosis, Low Potassium Level, and 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:
- Anemia
- Bone weakening and fractures
- Cardiac tamponade
- Changes in glucose metabolism
- Congestive heart failure
- End-stage kidney disease
- 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)
- Infertility
- Menstrual problems
- Miscarriage
- Pericarditis
- Peripheral neuropathy
- Platelet dysfunction with easy bruising
- Skin color changes
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.
Published Date: August 28, 2023
Published 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.
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.