دورية أكاديمية
Hipertrigliceridemia grave em lactente: um caso de síndrome de quilomicronemia familiar
| العنوان: | Hipertrigliceridemia grave em lactente: um caso de síndrome de quilomicronemia familiar |
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| المؤلفون: | Janinne Barboza Rangel, Wallace William da Silva Meireles, Ana Carolina Rathsam Leite, Cristina Touguinha Neves Medina, Maria Teresinha de Oliveira Cardoso, Romina Soledad Heredia Garcia Silva |
| المصدر: | Residência Pediátrica, Vol 14, Iss 1 (2024) |
| بيانات النشر: | Sociedade Brasileira de Pediatria, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Pediatrics |
| مصطلحات موضوعية: | hypertriglyceridemia, hyperlipoproteinemia type i, rare diseases, lipoprotein lipase, Pediatrics, RJ1-570 |
| الوصف: | Familial chylomicronemia syndrome (FCS) is a rare, autosomal recessive monogenic disease, affecting 1:1,000,000000. A hallmark of the disease is the severe hypertriglyceridemia caused by either lipoprotein lipase (LPL) enzyme deficiency or one of its cofactors, compromising triglycerides (TG) metabolism. The index case is a 2 months old male infant with severe hypertriglyceridemia, level at presentation was extremely high 33280 mg/dL, hepatomegaly, steatosis and lipemia retinalis. Exchange transfusion blood was performed to reduce triglycerides to acceptable levels and to minimize the potential for acute pancreatitis and clinical signs related to hypertriglyceridemia. Sequencing of the LPL gene revealed a compound heterozygous pathogenic variants. This report highlights the importance of clinical suspicion for early diagnosis of severe hypertriglyceridemia, which is needed for prompt management and prevention of severe complications and risk of death. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English Portuguese |
| تدمد: | 2236-6814 |
| Relation: | https://cdn.publisher.gn1.link/residenciapediatrica.com.br/pdf/v14n1a923.pdf; https://doaj.org/toc/2236-6814 |
| DOI: | 10.25060/residpediatr-2024.v14n1-923 |
| URL الوصول: | https://doaj.org/article/6478d961b7774952a163a6f40baa426b |
| رقم الأكسشن: | edsdoj.6478d961b7774952a163a6f40baa426b |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 22366814 |
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| DOI: | 10.25060/residpediatr-2024.v14n1-923 |