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 clin...
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| Format: | Article |
| Language: | Russian |
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Union of pediatricians of Russia
2023-03-01
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| Series: | Педиатрическая фармакология |
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| Online Access: | https://www.pedpharma.ru/jour/article/view/2267 |
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| author | Marina S. Malyugina Daria A. Lavrova Ekaterina A. Matveeva |
| author_facet | Marina S. Malyugina Daria A. Lavrova Ekaterina A. Matveeva |
| author_sort | Marina S. Malyugina |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-df902c65b61d4bd59b174a77d2d3c1fb |
| institution | Matheson Library |
| issn | 1727-5776 2500-3089 |
| language | Russian |
| publishDate | 2023-03-01 |
| publisher | Union of pediatricians of Russia |
| record_format | Article |
| series | Педиатрическая фармакология |
| spelling | doaj-art-df902c65b61d4bd59b174a77d2d3c1fb2025-08-03T19:21:30ZrusUnion of pediatricians of RussiaПедиатрическая фармакология1727-57762500-30892023-03-01201565810.15690/pf.v20i1.25261958Homozygous Methemoglobinemia Course in a 2-Year-Old GirlMarina S. Malyugina0Daria A. Lavrova1Ekaterina A. Matveeva2Pirogov Russian National Research Medical UniversityPirogov Russian National Research Medical UniversityPirogov Russian National Research Medical UniversityBackground. 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.https://www.pedpharma.ru/jour/article/view/2267methemoglobinemiahomozygous methemoglobinemianicotinamide adenine dinucleotide hydrogenase-cytochromeb5-reductaseclinical casechildrenmethemoglobincyanosisascorbic acid |
| spellingShingle | Marina S. Malyugina Daria A. Lavrova Ekaterina A. Matveeva Homozygous Methemoglobinemia Course in a 2-Year-Old Girl Педиатрическая фармакология methemoglobinemia homozygous methemoglobinemia nicotinamide adenine dinucleotide hydrogenase-cytochromeb5-reductase clinical case children methemoglobin cyanosis ascorbic acid |
| title | Homozygous Methemoglobinemia Course in a 2-Year-Old Girl |
| title_full | Homozygous Methemoglobinemia Course in a 2-Year-Old Girl |
| title_fullStr | Homozygous Methemoglobinemia Course in a 2-Year-Old Girl |
| title_full_unstemmed | Homozygous Methemoglobinemia Course in a 2-Year-Old Girl |
| title_short | Homozygous Methemoglobinemia Course in a 2-Year-Old Girl |
| title_sort | homozygous methemoglobinemia course in a 2 year old girl |
| topic | methemoglobinemia homozygous methemoglobinemia nicotinamide adenine dinucleotide hydrogenase-cytochromeb5-reductase clinical case children methemoglobin cyanosis ascorbic acid |
| url | https://www.pedpharma.ru/jour/article/view/2267 |
| work_keys_str_mv | AT marinasmalyugina homozygousmethemoglobinemiacourseina2yearoldgirl AT dariaalavrova homozygousmethemoglobinemiacourseina2yearoldgirl AT ekaterinaamatveeva homozygousmethemoglobinemiacourseina2yearoldgirl |