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</div><div><span>Autosomal dominant tubulointerstitial kidney disease</span></div></div>
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</a><h1 class="with-also" itemprop="name">Autosomal dominant tubulointerstitial kidney disease</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>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.</p></div><section><div class="section"><div class="section-header"><div class="section-title"><h2>Causes</h2></div><div class="section-button"><button type="submit" aria-controls="section-1" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-1"><p>ADTKD is caused by mutations in certain genes. These gene problems are passed down through families (inherited) in an <a test="test" href="./002049.htm">autosomal dominant pattern</a>. This means the abnormal gene is needed from only one parent in order to inherit the disease. Often, many family members have the disease.</p><p>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.</p><p>The abnormal genes that cause the different forms of ADTKD are:</p><ul><li><em>UMOD</em> gene -- causes ADTKD-<em>UMOD</em>, or uromodulin kidney disease</li><li><em>MUC1</em> gene -- causes ADTKD-<em>MUC1</em>, or mucin-1 kidney disease</li><li><em>REN</em> gene -- causes ADTKD-<em>REN</em>, or familial juvenile hyperuricemic nephropathy type 2 (FJHN2)</li><li><em>HNF1B</em> gene -- causes ADTKD-<em>HNF1B</em>, or maturity-onset diabetes mellitus of the young type 5 (MODY5) </li></ul><p>When the cause of ADTKD is not known or a genetic test has not been done, it is called ADTKD-NOS.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Symptoms</h2></div><div class="section-button"><button type="submit" aria-controls="section-2" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-2"><p>Early in the disease, depending on the form of ADTKD, symptoms may include:</p><ul><li>Excessive urination (polyuria)</li><li><a test="test" href="./000422.htm">Gout</a></li><li>Salt cravings</li><li><a test="test" href="./003141.htm">Urination at night</a> (nocturia)</li><li>Weakness </li></ul><p>As the disease worsens, symptoms of <a test="test" href="./000471.htm">kidney failure</a> may develop, which include:</p><ul><li>Easy bruising or bleeding</li><li><a test="test" href="./003088.htm">Fatigue</a>, weakness</li><li>Frequent hiccups</li><li>Headache</li><li>Increased skin color (skin may appear yellow or brown)</li><li>Itching</li><li><a test="test" href="./003089.htm">Malaise</a> (general ill feeling)</li><li>Muscle twitching or cramps</li><li>Nausea</li><li>Pale skin</li><li>Reduced sensation in the hands, feet, or other areas</li><li>Vomiting blood or blood in the stool</li><li>Weight loss</li><li><a test="test" href="./003200.htm">Seizures</a></li><li>Confusion, decreased alertness, coma </li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Exams and Tests</h2></div><div class="section-button"><button type="submit" aria-controls="section-3" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-3"><p>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.</p><p>Tests that may be done include:</p><ul><li><a test="test" href="./003425.htm">24-hour urine volume</a> and <a test="test" href="./002350.htm">electrolytes</a></li><li><a test="test" href="./003474.htm">Blood urea nitrogen</a> (BUN)</li><li><a test="test" href="./003642.htm">Complete blood count</a> (CBC)</li><li><a test="test" href="./003475.htm">Creatinine</a> blood test</li><li><a test="test" href="./003611.htm">Creatinine clearance</a> -- blood and urine</li><li>Uric acid blood test</li><li><a test="test" href="./003587.htm">Urine specific gravity</a> (will be low) </li></ul><p>The following tests can help diagnose this condition:</p><ul><li><a test="test" href="./003789.htm">Abdominal CT scan</a></li><li><a test="test" href="./003777.htm">Abdominal ultrasound</a></li><li><a test="test" href="./003907.htm">Kidney biopsy</a></li><li>Kidney ultrasound </li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Treatment</h2></div><div class="section-button"><button type="submit" aria-controls="section-4" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-4"><p>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.</p><p>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.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Outlook (Prognosis)</h2></div><div class="section-button"><button type="submit" aria-controls="section-5" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-5"><p>The age at which people with ADTKD reach <a test="test" href="./000500.htm">end-stage kidney disease</a> 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.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Possible Complications</h2></div><div class="section-button"><button type="submit" aria-controls="section-6" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-6"><p>Kidney damage due to ADTKD may lead to the following health problems:</p><ul><li><a test="test" href="./000560.htm">Anemia</a></li><li>Bone weakening and fractures</li><li><a test="test" href="./000194.htm">Cardiac tamponade</a></li><li>Changes in glucose metabolism</li><li>Congestive heart failure</li><li>End-stage kidney disease</li><li><a test="test" href="./000468.htm">High blood pressure</a></li><li><a test="test" href="./000394.htm">Hyponatremia</a> (low blood sodium level)</li><li><a test="test" href="./001179.htm">Hyperkalemia</a> (too much potassium in the blood), especially with end-stage kidney disease</li><li><a test="test" href="./000479.htm">Hypokalemia</a> (too little potassium in the blood)</li><li>Infertility</li><li>Menstrual problems</li><li>Miscarriage</li><li><a test="test" href="./000182.htm">Pericarditis</a></li><li><a test="test" href="./000593.htm">Peripheral neuropathy</a></li><li>Platelet dysfunction with easy bruising</li><li>Skin color changes</li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>When to Contact a Medical Professional</h2></div><div class="section-button"><button type="submit" aria-controls="section-7" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-7"><p>Contact your provider if you have any symptoms of urinary or kidney problems.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Prevention</h2></div><div class="section-button"><button type="submit" aria-controls="section-8" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-8"><p>Autosomal dominant tubulointerstitial kidney disease is an inherited disorder. It may not be preventable.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Alternative Names</h2></div><div class="section-button"><button type="submit" aria-controls="section-Alt" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Alt"><p>ADTKD; Medullary cystic kidney disease; Renin associated kidney disease; Familial juvenile hyperuricemic nephropathy; Uromodulin associated kidney disease</p></div></div></section><section><div class="section sec-mb"><div class="section-header"><div class="section-title"><h2>Images</h2></div><div class="section-button"><button type="submit" aria-controls="section-tnails" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>References</h2></div><div class="section-button"><button type="submit" aria-controls="section-Ref" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Ref"><p>Eckardt KU, Alper SL, Antignac C, et al. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--a KDIGO consensus report. <em>Kidney Int</em>. 2015;88(4):676-683. PMID: 25738250 <a href="https://pubmed.ncbi.nlm.nih.gov/25738250/" target="_blank">pubmed.ncbi.nlm.nih.gov/25738250/</a>.</p><p>Guay-Woodford LM. Other cystic kidney diseases. In: Johnson RJ, Floege J, Tonelli M, eds. <em>Comprehensive Clinical Nephrology</em>. 7th ed. Philadelphia, PA: Elsevier; 2024:chap 47.</p><p>Torres VE, Harris PC. Cystic diseases of the kidney. In: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. <em>Brenner and Rector's The Kidney</em>. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 45.</p></div></div></section>
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<section><div class="section"><div class="section-header"><div class="section-title"><h2>Review Date 8/28/2023</h2></div><div class="section-button"><button type="submit" aria-controls="section-version" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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<div id="section-version" class="section-body"><p>Updated 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. </p>
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