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</div><div><span>Alstrom syndrome</span></div></div>
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<article><div id="d-article"><div class="page-info"><div class="page-title"><a name="start" id="start">
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</a><h1 class="with-also" itemprop="name">Alstrom syndrome</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Alström syndrome is a very rare disease. It is passed down through families (inherited). This disease can lead to <a test="test" href="./003040.htm">blindness</a>, <a test="test" href="./003044.htm">deafness</a>, <a test="test" href="./001214.htm">diabetes</a>, and <a test="test" href="./003101.htm">obesity</a>.</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>Alström syndrome is inherited in an <a test="test" href="./002052.htm">autosomal recessive</a> manner. This means both of your parents must pass on a copy of the defective gene (ALMS1) in order for you to have this disease. </p><p>It is unknown how the defective gene causes the disorder.</p><p>The condition is very rare.</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>Common symptoms of this condition are:</p><ul><li>Blindness or severe <a test="test" href="./003029.htm">vision impairment</a> in infancy</li><li>Dark patches of skin (acanthosis nigricans)</li><li>Deafness</li><li>Impaired heart function (<a test="test" href="./001105.htm">cardiomyopathy</a>), which may lead to heart failure</li><li>Obesity</li><li>Progressive kidney failure</li><li>Slowed growth</li><li>Symptoms of childhood-onset or type 2 diabetes </li></ul><p>Occasionally, the following can also occur:</p><ul><li>Gastrointestinal reflux</li><li><a test="test" href="./000353.htm">Hypothyroidism</a></li><li>Liver dysfunction</li><li>Small penis </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>An eye doctor (ophthalmologist) will examine the eyes. The person may have reduced vision.</p><p>Tests may be done to check:</p><ul><li>Blood sugar levels (to diagnose high blood sugar or <a test="test" href="./003482.htm">hyperglycemia</a>)</li><li>Hearing</li><li>Heart function</li><li>Thyroid function</li><li><a test="test" href="./003493.htm">Triglyceride</a> levels </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 specific treatment for this syndrome. Treatment for symptoms may include:</p><ul><li>Diabetes medicine</li><li>Hearing aids</li><li>Heart medicine</li><li>Thyroid hormone replacement </li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Support Groups</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>Alström Syndrome International -- <a class="extln" target="_blank" href="https://www.alstrom.org">www.alstrom.org</a></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-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>The following are likely to develop:</p><ul><li>Deafness</li><li>Permanent blindness</li><li>Type 2 diabetes </li></ul><p>Kidney and liver failure may get worse.</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-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>Possible complications are:</p><ul><li>Complications from diabetes</li><li>Coronary artery disease (from diabetes and high cholesterol)</li><li>Fatigue and shortness of breath (if poor heart function is not treated) </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-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>Contact your health care provider if you or your child has symptoms of diabetes. Common symptoms of diabetes are increased thirst and urination. Seek medical attention right away if you think that your child cannot see or hear normally.</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>Alström syndrome</p></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>Farooqi IS, O'Rahilly S. Genetic syndromes associated with obesity. In: Jameson JL, De Groot LJ, de Kretser DM, et al, eds. <em>Endocrinology: Adult and Pediatric</em>. 7th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 28.</p><p>Freund KB, Sarraf D, Mieler WF, Yannuzzzi LA. Hereditary chorioretinal dystrophies. In: Freund KB, Sarraf D, Mieler WF, Yannuzzi LA, eds. <em>The Retinal Atlas</em>. 2nd ed. Philadelphia, PA: Elsevier; 2017:chap 2.</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 7/28/2022</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: Charles I. Schwartz MD, FAAP, Clinical Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, General Pediatrician at PennCare for Kids, Phoenixville, PA. 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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