Neonatal hemochromatosis: a case report with unique presentation
Acute liver failure (ALF) is a relatively rare condition in neonates, and early diagnosis and treatment are crucial for the treatable conditions. Neonatal hemochromatosis (NH) is a rare clinical condition that is clinically defined as severe neonatal liver disease associated with hepatic and...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2011-08-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/1801 |
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| author | Murat Cakir Mehmet Mutlu Sevdegül Aydin-Mungan Ayşegül Cansu Yakup Aslan Erol Erduran |
| author_facet | Murat Cakir Mehmet Mutlu Sevdegül Aydin-Mungan Ayşegül Cansu Yakup Aslan Erol Erduran |
| author_sort | Murat Cakir |
| collection | DOAJ |
| description |
Acute liver failure (ALF) is a relatively rare condition in neonates, and early diagnosis and treatment are crucial for the treatable conditions. Neonatal hemochromatosis (NH) is a rare clinical condition that is clinically defined as severe neonatal liver disease associated with hepatic and extrahepatic iron deposition in a distribution similar to that seen in hereditary hemochromatosis. Although a few cases have been reported with spontaneous remission, early and aggressive medical treatment is essential for improving the outcome. Despite aggressive treatment, some patients may require liver transplantation. We report a five-day-old male infant with NH and associated Duarte variant galactosemia, renal tubulopathy and hypertyrosinemia, who was successfully treated with combination medical treatment. Combination therapy may reduce the need for liver transplantation in infants with NH. Early diagnosis and aggressive treatment are important as in galactosemia or tyrosinemia for the outcome. Thus, NH may be listed as a treatable cause of ALF in neonates.
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| format | Article |
| id | doaj-art-27bccc25a2bf463492eb6344814161fa |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2011-08-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-27bccc25a2bf463492eb6344814161fa2025-08-20T03:16:22ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212011-08-01534Neonatal hemochromatosis: a case report with unique presentationMurat Cakir0Mehmet MutluSevdegül Aydin-MunganAyşegül CansuYakup AslanErol ErduranDepartment of Pediatric Gastroenterology, Hepatology and Nutrition, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey. Acute liver failure (ALF) is a relatively rare condition in neonates, and early diagnosis and treatment are crucial for the treatable conditions. Neonatal hemochromatosis (NH) is a rare clinical condition that is clinically defined as severe neonatal liver disease associated with hepatic and extrahepatic iron deposition in a distribution similar to that seen in hereditary hemochromatosis. Although a few cases have been reported with spontaneous remission, early and aggressive medical treatment is essential for improving the outcome. Despite aggressive treatment, some patients may require liver transplantation. We report a five-day-old male infant with NH and associated Duarte variant galactosemia, renal tubulopathy and hypertyrosinemia, who was successfully treated with combination medical treatment. Combination therapy may reduce the need for liver transplantation in infants with NH. Early diagnosis and aggressive treatment are important as in galactosemia or tyrosinemia for the outcome. Thus, NH may be listed as a treatable cause of ALF in neonates. https://turkjpediatr.org/article/view/1801 |
| spellingShingle | Murat Cakir Mehmet Mutlu Sevdegül Aydin-Mungan Ayşegül Cansu Yakup Aslan Erol Erduran Neonatal hemochromatosis: a case report with unique presentation The Turkish Journal of Pediatrics |
| title | Neonatal hemochromatosis: a case report with unique presentation |
| title_full | Neonatal hemochromatosis: a case report with unique presentation |
| title_fullStr | Neonatal hemochromatosis: a case report with unique presentation |
| title_full_unstemmed | Neonatal hemochromatosis: a case report with unique presentation |
| title_short | Neonatal hemochromatosis: a case report with unique presentation |
| title_sort | neonatal hemochromatosis a case report with unique presentation |
| url | https://turkjpediatr.org/article/view/1801 |
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