منابع مشابه
Postprandial hypertriglyceridaemia in patients with Tangier disease.
BACKGROUND Tangier disease (TD) is the phenotypic expression of rare familial syndromes with mutations in the ABCA1 transporter. TD results in extremely low high density lipoprotein (HDL) cholesterol and reduced low density lipoprotein cholesterol, with normal or mildly increased fasting triglyceride (TG) concentrations. Although there is a close relation between HDL cholesterol values and athe...
متن کاملPathology of Tangier disease.
Two cases of Tangier disease are described in children from families unrelated to each other. Necropsy in one case, the first to be reported in this condition, showed large collections of cholesterol-laden macrophages in tonsils, thymus, lymph nodes, and colon, and moderate numbers in pyelonephritic scars and ureter. As the storage cells may be scanty in marrow, jejunum, and liver, the rectum i...
متن کاملTangier disease: a structural defect in apolipoprotein A-I (apoA-I Tangier).
Tangier disease is a familial disorder characterized by orange tonsils, cholesterol ester deposition in reticuloendothelial cells, abnormal chylomicron remnants, and a marked reduction in high density lipoproteins. Plasma concentrations of the apolipoproteins apo-A-I and apoA-II in patients with Tangier disease are approximately 1% and 7% of those in normal subjects, respectively. Previous stud...
متن کاملThe iPSC Awakens ANGPTL3 in Tangier Disease
Patients with genetic mutation of ATP-binding Cassette Transporter A1 (ABCA1), commonly known as Tangier Disease (TD), can be characterized by elevated levels of plasma triglycerides (hypertriglyceridemia) and low plasma high-density lipoprotein (HDL) levels. With current HDL therapies continuously failing in clinical trials, there is no cure for TD other than maintaining a very low fat diet. T...
متن کاملLewis-Sumner syndrome and Tangier disease.
OBJECTIVE To report unusual electrophysiologic data in a patient with Tangier disease in an effort to better understand the pathophysiologic features of the peripheral nerve lesions in this disease. DESIGN Case report. PATIENT A 15-year-old girl had subacute onset of asymmetric neuropathy with persistent conduction block, resembling Lewis-Sumner syndrome. MAIN OUTCOME MEASURES Electrophys...
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ژورنال
عنوان ژورنال: Ear, Nose & Throat Journal
سال: 2003
ISSN: 0145-5613,1942-7522
DOI: 10.1177/014556130308200308