Fatal pulmonary embolism due to ınherited thrombophilia factors in a child with wolfram syndrome
| Autor: | Kucuktasci, K., Semiz, Serap, Balcı, Yasemin Işık, Özsari, T., Gürses, Dolunay, Önem, Gökhan, Saçar, Mustafa, Düzcan, Füsun, Yüksel, Doğangün, Semiz, Ender |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
desmopressin
pulmonary embolism loading drug dose resuscitation heparin thrombofilia risk factors physical examination protein C rheumatoid factor computer assisted tomography diabetic ketoacidosis Fatal Outcome methylenetetrahydrofolate reductase gene echocardiography Thrombophilia genetics gene mutation C reactive protein heart atrium thrombosis single drug dose enoxaparin optic nerve atrophy blood clotting factor 5 female priority journal risk factor diabetes insipidus thrombectomy laboratory test diabetes mellitus activated protein C resistance lung embolism insulin cardiopulmonary arrest Adolescent methylenetetrahydrofolate reductase (NADPH2) complication embolism insulin dependent diabetes mellitus Article clinical examination fatality case report degenerative disease heterozygosity Humans human gene thrombosis Wolfram syndrome Glasgow coma scale Factor V hearing impairment thromboembolism ceftriaxone warfarin blood clotting factor 5 Leiden Diabetes Mellitus Type 1 homozygosity |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|