BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuAutosomal dominant tubulointerstitial kidney diseaseADTKD; Medullary cystic kidney disease; Renin associated kidney disease; Familial juvenile hyperuricemic nephropathy; Uromodulin associated kidney diseaseAutosomal 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. Causes 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.Autosomal dominant patternAutosomal dominant is one of many ways that a trait or disorder can be passed down through families. In an autosomal dominant disease, if you get the...ImageRead Article Now Book Mark Article 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. Symptoms Early in the disease, depending on the form of ADTKD, symptoms may include:Excessive urination (polyuria) Gout GoutGout is a type of arthritis. It occurs when uric acid builds up in the blood and causes inflammation in the joints. Acute gout is a painful conditio...ImageRead Article Now Book Mark Article Salt cravings Urination at night (nocturia) Urination at nightNormally, the amount of urine your body produces decreases at night. This allows most people to sleep 6 to 8 hours without having to urinate. Some p...ImageRead Article Now Book Mark Article Weakness As the disease worsens, symptoms of kidney failure may develop, which include:Kidney failureChronic kidney disease is the slow loss of kidney function over time. The main job of the kidneys is to remove wastes and excess water from the body...ImageRead Article Now Book Mark Article Easy bruising or bleeding Fatigue, weakness FatigueFatigue is a feeling of weariness, tiredness, or lack of energy.Read Article Now Book Mark Article Frequent hiccups Headache Increased skin color (skin may appear yellow or brown) Itching Malaise (general ill feeling) MalaiseMalaise is a general feeling of discomfort, illness, or lack of well-being.Read Article Now Book Mark Article 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 SeizuresA seizure is the physical changes in behavior that occurs during an episode of specific types of abnormal electrical activity in the brain. The term ...ImageRead Article Now Book Mark Article Confusion, decreased alertness, coma Exams and Tests 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:24-hour urine volume and electrolytes 24-hour urine volumeThe urine 24-hour volume test measures the amount of urine produced in a day. The amounts of creatinine, protein, and other chemicals released into ...ImageRead Article Now Book Mark Article ElectrolytesElectrolytes are minerals in your blood and other body fluids that carry an electric charge. Electrolytes affect how your body functions in many ways...Read Article Now Book Mark Article Blood urea nitrogen (BUN) Blood urea nitrogenBUN stands for blood urea nitrogen. Urea nitrogen is what forms when protein breaks down. A test can be done to measure the amount of urea nitrogen ...ImageRead Article Now Book Mark Article Complete blood count (CBC) Complete blood countA complete blood count (CBC) test measures the following:The number of white blood cells (WBC count)The number of red blood cells (RBC count)The numb...ImageRead Article Now Book Mark Article Creatinine blood test CreatinineThe creatinine blood test measures the level of creatinine in the blood. This test is done to see how well your kidneys are working. Creatinine in t...ImageRead Article Now Book Mark Article Creatinine clearance -- blood and urine Creatinine clearanceThe creatinine clearance test helps provide information about how well the kidneys are working. The test compares the creatinine level in urine with...ImageRead Article Now Book Mark Article Uric acid blood test Urine specific gravity (will be low) Urine specific gravityUrine specific gravity is a laboratory test that shows the total concentration of all chemical particles in the urine.ImageRead Article Now Book Mark Article The following tests can help diagnose this condition:Abdominal CT scan Abdominal CT scanAn abdominal CT scan is an imaging method. This test uses x-rays to create cross-sectional pictures of the belly area. CT stands for computed tomog...ImageRead Article Now Book Mark Article Abdominal ultrasound Abdominal ultrasoundAbdominal ultrasound is a type of imaging test. It is used to look at organs in the abdomen, including the liver, gallbladder, spleen, pancreas, and...ImageRead Article Now Book Mark Article Kidney biopsy Kidney biopsyA kidney biopsy is the removal of a small piece of kidney tissue for examination.ImageRead Article Now Book Mark Article Kidney ultrasound Treatment 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. Outlook (Prognosis) 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.End-stage kidney diseaseEnd-stage kidney disease (ESKD) is the last stage of long-term (chronic) kidney disease. This is when your kidneys can no longer support your body's...ImageRead Article Now Book Mark Article Possible Complications Kidney damage due to ADTKD may lead to the following health problems:Anemia AnemiaAnemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues. Different type...ImageRead Article Now Book Mark Article Bone weakening and fractures Cardiac tamponade Cardiac tamponadeCardiac tamponade is pressure on the heart that occurs when blood or fluid builds up in the space between the heart muscle and the outer covering sac...ImageRead Article Now Book Mark Article Changes in glucose metabolism Congestive heart failure End-stage kidney disease High blood pressure High blood pressureBlood pressure is a measurement of the force exerted against the walls of your arteries as your heart pumps blood to your body. Hypertension is the ...ImageRead Article Now Book Mark Article Hyponatremia (low blood sodium level) HyponatremiaLow blood sodium is a condition in which the sodium level in the blood is lower than normal. The medical name of this condition is hyponatremia....Read Article Now Book Mark Article Hyperkalemia (too much potassium in the blood), especially with end-stage kidney disease HyperkalemiaHigh potassium level is a problem in which the amount of potassium in the blood is higher than normal. The medical name of this condition is hyperka...ImageRead Article Now Book Mark Article Hypokalemia (too little potassium in the blood) HypokalemiaLow blood potassium level is a condition in which the amount of potassium in the blood is lower than normal. The medical name of this condition is h...ImageRead Article Now Book Mark Article Infertility Menstrual problems Miscarriage Pericarditis PericarditisPericarditis is a condition in which the sac-like covering around the heart (pericardium) becomes inflamed.ImageRead Article Now Book Mark Article Peripheral neuropathy Peripheral neuropathyPeripheral nerves carry information to and from the brain. They also carry signals to and from the spinal cord to the rest of the body. Peripheral n...ImageRead Article Now Book Mark Article Platelet dysfunction with easy bruising Skin color changes When to Contact a Medical Professional Contact your provider if you have any symptoms of urinary or kidney problems. Prevention Autosomal dominant tubulointerstitial kidney disease is an inherited disorder. It may not be preventable.Open ReferencesReferencesEckardt 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.AllVideoImagesTogKidney anatomy - illustration The kidneys are responsible for removing wastes from the body, regulating electrolyte balance and blood pressure, and the stimulation of red blood cell production.Kidney anatomyillustrationKidney - blood and urine flow - illustration This is the typical appearance of the blood vessels (vasculature) and urine flow pattern in the kidney. The blood vessels are shown in red and the urine flow pattern in yellow.Kidney - blood and urine flowillustrationKidney anatomy - illustration The kidneys are responsible for removing wastes from the body, regulating electrolyte balance and blood pressure, and the stimulation of red blood cell production.Kidney anatomyillustrationKidney - blood and urine flow - illustration This is the typical appearance of the blood vessels (vasculature) and urine flow pattern in the kidney. The blood vessels are shown in red and the urine flow pattern in yellow.Kidney - blood and urine flowillustrationRelated Information Cyst(Symptoms)Low blood sodium(Condition)Pericarditis(Condition)Cardiac tamponade(Condition)Anemia(Condition)Peripheral neuropathy(Condition)Electrolytes(Special Topic)High potassium level(Condition)High blood pressure in adults – hypertension(Condition)Anemia - InDepth(In-Depth)High blood pressure - InDepth(In-Depth) 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. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited. © 1997- All rights reserved. A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.Content is best viewed in IE9 or above, Firefox and Google Chrome browser.
Autosomal dominant tubulointerstitial kidney diseaseADTKD; Medullary cystic kidney disease; Renin associated kidney disease; Familial juvenile hyperuricemic nephropathy; Uromodulin associated kidney diseaseAutosomal 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. Causes 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.Autosomal dominant patternAutosomal dominant is one of many ways that a trait or disorder can be passed down through families. In an autosomal dominant disease, if you get the...ImageRead Article Now Book Mark Article 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. Symptoms Early in the disease, depending on the form of ADTKD, symptoms may include:Excessive urination (polyuria) Gout GoutGout is a type of arthritis. It occurs when uric acid builds up in the blood and causes inflammation in the joints. Acute gout is a painful conditio...ImageRead Article Now Book Mark Article Salt cravings Urination at night (nocturia) Urination at nightNormally, the amount of urine your body produces decreases at night. This allows most people to sleep 6 to 8 hours without having to urinate. Some p...ImageRead Article Now Book Mark Article Weakness As the disease worsens, symptoms of kidney failure may develop, which include:Kidney failureChronic kidney disease is the slow loss of kidney function over time. The main job of the kidneys is to remove wastes and excess water from the body...ImageRead Article Now Book Mark Article Easy bruising or bleeding Fatigue, weakness FatigueFatigue is a feeling of weariness, tiredness, or lack of energy.Read Article Now Book Mark Article Frequent hiccups Headache Increased skin color (skin may appear yellow or brown) Itching Malaise (general ill feeling) MalaiseMalaise is a general feeling of discomfort, illness, or lack of well-being.Read Article Now Book Mark Article 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 SeizuresA seizure is the physical changes in behavior that occurs during an episode of specific types of abnormal electrical activity in the brain. The term ...ImageRead Article Now Book Mark Article Confusion, decreased alertness, coma Exams and Tests 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:24-hour urine volume and electrolytes 24-hour urine volumeThe urine 24-hour volume test measures the amount of urine produced in a day. The amounts of creatinine, protein, and other chemicals released into ...ImageRead Article Now Book Mark Article ElectrolytesElectrolytes are minerals in your blood and other body fluids that carry an electric charge. Electrolytes affect how your body functions in many ways...Read Article Now Book Mark Article Blood urea nitrogen (BUN) Blood urea nitrogenBUN stands for blood urea nitrogen. Urea nitrogen is what forms when protein breaks down. A test can be done to measure the amount of urea nitrogen ...ImageRead Article Now Book Mark Article Complete blood count (CBC) Complete blood countA complete blood count (CBC) test measures the following:The number of white blood cells (WBC count)The number of red blood cells (RBC count)The numb...ImageRead Article Now Book Mark Article Creatinine blood test CreatinineThe creatinine blood test measures the level of creatinine in the blood. This test is done to see how well your kidneys are working. Creatinine in t...ImageRead Article Now Book Mark Article Creatinine clearance -- blood and urine Creatinine clearanceThe creatinine clearance test helps provide information about how well the kidneys are working. The test compares the creatinine level in urine with...ImageRead Article Now Book Mark Article Uric acid blood test Urine specific gravity (will be low) Urine specific gravityUrine specific gravity is a laboratory test that shows the total concentration of all chemical particles in the urine.ImageRead Article Now Book Mark Article The following tests can help diagnose this condition:Abdominal CT scan Abdominal CT scanAn abdominal CT scan is an imaging method. This test uses x-rays to create cross-sectional pictures of the belly area. CT stands for computed tomog...ImageRead Article Now Book Mark Article Abdominal ultrasound Abdominal ultrasoundAbdominal ultrasound is a type of imaging test. It is used to look at organs in the abdomen, including the liver, gallbladder, spleen, pancreas, and...ImageRead Article Now Book Mark Article Kidney biopsy Kidney biopsyA kidney biopsy is the removal of a small piece of kidney tissue for examination.ImageRead Article Now Book Mark Article Kidney ultrasound Treatment 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. Outlook (Prognosis) 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.End-stage kidney diseaseEnd-stage kidney disease (ESKD) is the last stage of long-term (chronic) kidney disease. This is when your kidneys can no longer support your body's...ImageRead Article Now Book Mark Article Possible Complications Kidney damage due to ADTKD may lead to the following health problems:Anemia AnemiaAnemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues. Different type...ImageRead Article Now Book Mark Article Bone weakening and fractures Cardiac tamponade Cardiac tamponadeCardiac tamponade is pressure on the heart that occurs when blood or fluid builds up in the space between the heart muscle and the outer covering sac...ImageRead Article Now Book Mark Article Changes in glucose metabolism Congestive heart failure End-stage kidney disease High blood pressure High blood pressureBlood pressure is a measurement of the force exerted against the walls of your arteries as your heart pumps blood to your body. Hypertension is the ...ImageRead Article Now Book Mark Article Hyponatremia (low blood sodium level) HyponatremiaLow blood sodium is a condition in which the sodium level in the blood is lower than normal. The medical name of this condition is hyponatremia....Read Article Now Book Mark Article Hyperkalemia (too much potassium in the blood), especially with end-stage kidney disease HyperkalemiaHigh potassium level is a problem in which the amount of potassium in the blood is higher than normal. The medical name of this condition is hyperka...ImageRead Article Now Book Mark Article Hypokalemia (too little potassium in the blood) HypokalemiaLow blood potassium level is a condition in which the amount of potassium in the blood is lower than normal. The medical name of this condition is h...ImageRead Article Now Book Mark Article Infertility Menstrual problems Miscarriage Pericarditis PericarditisPericarditis is a condition in which the sac-like covering around the heart (pericardium) becomes inflamed.ImageRead Article Now Book Mark Article Peripheral neuropathy Peripheral neuropathyPeripheral nerves carry information to and from the brain. They also carry signals to and from the spinal cord to the rest of the body. Peripheral n...ImageRead Article Now Book Mark Article Platelet dysfunction with easy bruising Skin color changes When to Contact a Medical Professional Contact your provider if you have any symptoms of urinary or kidney problems. Prevention Autosomal dominant tubulointerstitial kidney disease is an inherited disorder. It may not be preventable.Open ReferencesReferencesEckardt 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.