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https://hdl.handle.net/11499/9422
Title: | Fatal pulmonary embolism due to ınherited thrombophilia factors in a child with wolfram syndrome | Authors: | Kucuktasci, K. Semiz, Serap Balcı, Yasemin Işık Özsari, T. Gürses, Dolunay Önem, Gökhan Saçar, Mustafa |
Keywords: | pulmonary embolism thrombofilia risk factors Wolfram syndrome blood clotting factor 5 Leiden C reactive protein ceftriaxone desmopressin enoxaparin heparin insulin methylenetetrahydrofolate reductase (NADPH2) protein C rheumatoid factor warfarin blood clotting factor 5 adolescent Article cardiopulmonary arrest case report clinical examination computer assisted tomography degenerative disease diabetes insipidus diabetes mellitus diabetic ketoacidosis echocardiography embolism female gene gene mutation Glasgow coma scale hearing impairment heart atrium thrombosis heterozygosity homozygosity human insulin dependent diabetes mellitus laboratory test loading drug dose lung embolism methylenetetrahydrofolate reductase gene optic nerve atrophy physical examination priority journal resuscitation risk factor single drug dose thrombectomy thromboembolism thrombophilia thrombosis activated protein C resistance complication fatality genetics Pulmonary Embolism Activated Protein C Resistance Adolescent Diabetes Mellitus, Type 1 Factor V Fatal Outcome Female Humans Methylenetetrahydrofolate Reductase (NADPH2) Thrombophilia Wolfram Syndrome |
Publisher: | Lippincott Williams and Wilkins | Abstract: | Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus (DM), optic atrophy, diabetes insipidus, and deafness. Poorly controlled type 1 DM increases the risk for thrombosis. However, coexistence of DM and hereditary thrombosis factors is rarely observed. Here we present the case of a 13.5-year-old, nonfollowed girl newly diagnosed with poorly controlled Wolfram syndrome on the basis of the results of clinical and laboratory examinations. On the eighth day after diabetic ketoacidosis treatment, pulmonary embolism developed in the subject. Thrombus identified in the right atrium using echocardiography was treated by emergency thrombectomy. Homozygous mutation in the methylenetetrahydrofolate reductase gene C677T, heterozygous factor-V Leiden mutation, and active protein C resistance were identified in the patient. The patient was lost because of a recurring episode of pulmonary embolism on the 86th day of hospitalization. We present this case to highlight the need for investigating hereditary thrombosis risk factors in diabetic patients in whom thromboembolism develops. Copyright © 2016 Wolters Kluwer Health, Inc. All rights reserved. | URI: | https://hdl.handle.net/11499/9422 https://doi.org/10.1097/MPH.0000000000000634 |
ISSN: | 1077-4114 |
Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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