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Cystic fibrosis
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Hemochromatosis
Primary ciliary dyskinesia
Sarcoidosis
Wilson disease
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This patient presenting with male infertility, diabetes, and a tan appearance suggestive of “bronze diabetes” most likely has hemochromatosis. Hereditary hemochromatosis is caused by a defect in the HFE gene leading to increased intestinal iron absorption and a state of iron overload. Iron deposition in various body tissues occurs over years, including the liver, heart, and the endocrine organs. Hepatic iron overload causes hepatomegaly, transaminitis, and eventually hepatocellular carcinoma. Cardiac iron overload causes dilated cardiomyopathy and conduction system disturbances leading to arrhythmias. Iron overload in endocrine organs causes diabetes, hypopituitarism, and secondary hypogonadism leading to sexual dysfunction and infertility. Iron deposition in the testes may also contribute to male infertility. Iron deposition in the joints causes arthropathy. Diagnosis is with genetic testing for the HFE gene mutation. Treatment is with iron removal via phlebotomy and avoidance of further liver damage by limiting alcohol intake. Sandhu et al. studied the genetic variants of hereditary hemochromatosis and their relation to phenotypic outcomes. They found that mutations in the genes HJV and HAMP cause the most severe presentation, with cardiomyopathy and hypogonadism as the common findings. They recommended that more research be performed on the non-HFE genetic variants of hemochromatosis to better guide diagnosis and management. Incorrect Answers: Answer 1: Cystic fibrosis is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Patients with cystic fibrosis are usually identified through newborn screening in the United States. Prior to widespread screening, patients presented in infancy with meconium ileus, recurrent pulmonary infections, and failure to thrive. Men with cystic fibrosis may have congenital absence of the vas deferens, leading to infertility. Answer 3: Primary ciliary dyskinesia presents in the newborn period with respiratory distress, chronic rhinosinusitis, and, in some cases, situs inversus in which there is reversal of the circulatory system and viscera. Men with primary ciliary dyskinesia have immotile spermatozoa and are thus infertile. Answer 4: Sarcoidosis is an infiltrative disease that presents with cough, dyspnea, chest pain, malaise, and fatigue. Granulomatous infiltration into the testicular tissue can cause infertility. Many patients with sarcoidosis are asymptomatic and are identified incidentally via radiographic abnormalities like bilateral hilar adenopathy. Answer 5: Wilson disease is caused by a genetic defect in the copper transporter leading to accumulation of copper in body tissues over years. The primary sites of copper deposition are the liver, brain, and cornea, leading to hepatitis, liver failure, dysarthria, dystonia, tremors, cognitive impairment, and Kayser-Fleischer rings in the eyes. Copper deposition in the testes can lead to infertility. Bronzing of the skin would not be present. Bullet Summary: Hereditary hemochromatosis is caused by a mutation in the HFE gene leading to accumulation of iron in the liver, heart, and endocrine organs, causing liver damage, hepatocellular carcinoma, dilated cardiomyopathy, and “bronze diabetes.”
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