Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy
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چکیده
منابع مشابه
Congenital Generalized Lipodystrophy in a Youth Presented with Sclerotic and Lytic Bone Lesions; a Family with AGPAT2 Mutation
BackgroundCongenital generalized lipodystrophy (CGL) is a rare disease. It is associated with near total fat loss, severe insulin resistance and hypoleptinemia leading to metabolic derangements.Case PresentationWe report a 25- year- old female with 1-Acylglycerol-3-phosphate-O-acyltransferase 2 (APGAT2) mutation, and both sclerotic and lytic bone lesions together for the first time. Bone cyst i...
متن کاملA case of severe pulmonary hypertension associated with common arterial trunk and VSD in a 9 years old child
Background: Common arterial trunk (CAT) is a rare congenital heart disease, and often leads to the early development of pulmonary hypertension and disability. Among the critical structural heart defects, the frequency of CAT is 3%, which reflects the severe hemodynamic disturbances. The natural course of the disease is characterized by a high mortality rate up to 88% during the first year of li...
متن کاملWhole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension.
BACKGROUND Heritable and idiopathic pulmonary arterial hypertension (PAH) are phenotypically identical and associated with mutations in several genes related to transforming growth factor (TGF) beta signaling, including bone morphogenetic protein receptor type 2, activin receptor-like kinase 1, endoglin, and mothers against decapentaplegic 9. Approximately 25% of heritable cases lack identifiab...
متن کاملManagement of pulmonary arterial hypertension associated with congenital heart disease.
Congenital heart diseases are the most common congenital malformations and account for about eight cases per 1000 births and are often associated with pulmonary arterial hypertension. Increased shear stress and the excess flow through the pulmonary vascular bed due to a systemic-to-pulmonary shunt lead to the development of pulmonary vascular disease and an increase in pulmonary vascular resist...
متن کاملcongenital generalized lipodystrophy, coincident with portal hypertension: a case report and review of literature
congenital generalized lipodystrophy (cgl) is a rare and progressive disorder (1 in 12 milion). common clinical manifestations are lipoatrophy, acromegaloid feature, acanthosis nigricans, hyperlipidemia, diabetes mellitus or abnormal glucose tolerance test.â rarely fatty liver and cirrhosis is seen. the highest number reported in literature is 8 cases from brazil and 6 cases from scandinavia, r...
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ژورنال
عنوان ژورنال: Traffic
سال: 2016
ISSN: 1398-9219
DOI: 10.1111/tra.12452