Pulmonary Hypertension as an Initial Presentation of Wilson’s Disease: A Case Report
عنوان مقاله: Pulmonary Hypertension as an Initial Presentation of Wilson’s Disease: A Case Report
شناسه ملی مقاله: JR_RCM-6-4_008
منتشر شده در شماره 4 دوره 6 فصل در سال 1398
شناسه ملی مقاله: JR_RCM-6-4_008
منتشر شده در شماره 4 دوره 6 فصل در سال 1398
مشخصات نویسندگان مقاله:
Fariba Rezaeetalab - Lung Diseases Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
Mahnaz Mozdourian - Department of Internal Medicine Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
خلاصه مقاله:
Fariba Rezaeetalab - Lung Diseases Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
Mahnaz Mozdourian - Department of Internal Medicine Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Wilson’s disease is a rare genetic disorder, which is associated with clinical manifestations such as liver dysfunction, psychological and neurological issues, and specific laboratory findings demonstrating the increased urinary excretion of copper and copper accumulation in the body. Wilson’s disease is occasionally presented by atypical features, which delay the diagnosis of this rare disorder. This study aimed to describe the case of a patient with pulmonary and portal hypertension as a primary manifestation of Wilson’s disease. A young male patient was admitted to the emergency department due to the deterioration of respiratory symptoms and overall weakness. The patient had a history of dyspnea and fatigue, which was diagnosed as idiopathic pulmonary hypertension. In the previous admission, the liver function test of the patient was not disrupted, and serum/urinary copper and ceruloplasmin levels were normal. In the current admission, the patient had elevated bilirubin and enzyme levels, as well as abnormal copper and ceruloplasmin levels. Moreover, portal hypertensive gastropathy and Kayser-Fleischer ring were detected in further investigations, confirming the diagnosis of Wilson’s disease. To the best of our knowledge, this was the first report on Wilson’s disease initially presented with pulmonary and portal hypertension.
کلمات کلیدی: Portal Hypertension, Pulmonary hypertension, Wilson’s Disease
صفحه اختصاصی مقاله و دریافت فایل کامل: https://civilica.com/doc/1021951/