Marina S. Malyugina, D. A. Lavrova, Ekaterina A. Matveeva
{"title":"2岁女童纯合子高铁血红蛋白血症病程","authors":"Marina S. Malyugina, D. A. Lavrova, Ekaterina A. Matveeva","doi":"10.15690/pf.v20i1.2526","DOIUrl":null,"url":null,"abstract":"Background. Methemoglobinemia is a group of diseases caused by various factors where methemoglobin (MetHb) content in the blood increases above the physiological norm.Clinical case description. Clinical case of methemoglobinemia that was an incidental finding in two-year-old girl who was in the clinic due to the head injury is presented. Our examinations have revealed zero activity of cytochrome-b5-reductase enzyme. This fact indicates homozygous mutation. The cyanosis and hypoxia were relieved by ascorbic acid courses (250 mg/day).Conclusion. Increased alertness regarding long-term isolated cyanosis should be presented when excluding its most common causes. Timely management could prevent severe complications development. ","PeriodicalId":19997,"journal":{"name":"Pediatric pharmacology","volume":"7-8 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Homozygous Methemoglobinemia Course in a 2-Year-Old Girl\",\"authors\":\"Marina S. Malyugina, D. A. Lavrova, Ekaterina A. Matveeva\",\"doi\":\"10.15690/pf.v20i1.2526\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Background. Methemoglobinemia is a group of diseases caused by various factors where methemoglobin (MetHb) content in the blood increases above the physiological norm.Clinical case description. Clinical case of methemoglobinemia that was an incidental finding in two-year-old girl who was in the clinic due to the head injury is presented. Our examinations have revealed zero activity of cytochrome-b5-reductase enzyme. This fact indicates homozygous mutation. The cyanosis and hypoxia were relieved by ascorbic acid courses (250 mg/day).Conclusion. Increased alertness regarding long-term isolated cyanosis should be presented when excluding its most common causes. Timely management could prevent severe complications development. \",\"PeriodicalId\":19997,\"journal\":{\"name\":\"Pediatric pharmacology\",\"volume\":\"7-8 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-02-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric pharmacology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15690/pf.v20i1.2526\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric pharmacology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15690/pf.v20i1.2526","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Homozygous Methemoglobinemia Course in a 2-Year-Old Girl
Background. Methemoglobinemia is a group of diseases caused by various factors where methemoglobin (MetHb) content in the blood increases above the physiological norm.Clinical case description. Clinical case of methemoglobinemia that was an incidental finding in two-year-old girl who was in the clinic due to the head injury is presented. Our examinations have revealed zero activity of cytochrome-b5-reductase enzyme. This fact indicates homozygous mutation. The cyanosis and hypoxia were relieved by ascorbic acid courses (250 mg/day).Conclusion. Increased alertness regarding long-term isolated cyanosis should be presented when excluding its most common causes. Timely management could prevent severe complications development.
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