ID | 64131 |
フルテキストURL | |
著者 |
Tsuge, Mitsuru
Department of Pediatric Acute Disease, Okayama University Academic Field of Medicine, Dentistry, and Pharmaceutical Sciences
Kodera, Aya
Department of Pediatrics, Fukuyama City Hospital
Sumitomo, Hiromi
Department of Pediatrics, Matsuyama Red Cross Hospital
Araki, Tooru
Department of Pediatrics, National Hospital Organization Fukuyama Medical Center
Yoshida, Ryuichi
Department of Gastroenterological Surgery, Okayama University Hospital
Yasui, Kazuya
Department of Gastroenterological Surgery, Okayama University Hospital
Sato, Hiroki
Department of Gastroenterological Surgery, Okayama University Hospital
Washio, Yosuke
Department of Pediatric Acute Disease, Okayama University Academic Field of Medicine, Dentistry, and Pharmaceutical Sciences
Washio, Kana
Department of Pediatrics, Okayama University Hospital
Shigehara, Kenji
Department of Pediatrics, Okayama University Hospital
Yashiro, Masato
Department of Pediatrics, Okayama University Hospital
Yagi, Takahito
Department of Gastroenterological Surgery, Okayama University Hospital
Tsukahara, Hirokazu
Department of Pediatrics, Okayama University Academic Field of Medicine, Dentistry, and Pharmaceutical Sciences
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抄録 | Background Neonatal hemochromatosis causes acute liver failure during the neonatal period, mostly due to gestational alloimmune liver disease (GALD). Thalassemia causes hemolytic anemia and ineffective erythropoiesis due to mutations in the globin gene. Although neonatal hemochromatosis and thalassemia have completely different causes, the coexistence of these diseases can synergistically exacerbate iron overload. We report that a newborn with epsilon gamma delta beta-thalassemia developed neonatal hemochromatosis, which did not respond to iron chelators and rapidly worsened, requiring living-donor liver transplantation. Case presentation A 1-day-old Japanese boy with hemolytic anemia and targeted red blood cells was diagnosed with epsilon gamma delta beta-thalassemia by genetic testing, and required frequent red blood cell transfusions. At 2 months after birth, exacerbation of jaundice, grayish-white stool, and high serum ferritin levels were observed, and liver biopsy showed iron deposition in hepatocytes and Kupffer cells. Magnetic resonance imaging scans showed findings suggestive of iron deposits in the liver, spleen, pancreas, and bone marrow. The total amount of red blood cell transfusions administered did not meet the criteria for post-transfusion iron overload. Administration of an iron-chelating agent was initiated, but iron overload rapidly progressed to liver failure without improvement in jaundice and liver damage. He underwent living-donor liver transplantation from his mother, after which iron overload disappeared, and no recurrence of iron overload was observed. Immunohistochemical staining for C5b-9 in the liver was positive. Serum hepcidin levels were low and serum growth differentiation factor-15 levels were high prior to living-donor liver transplantation. Conclusions We reported that an infant with epsilon gamma delta beta-thalassemia developed NH due to GALD, and that coexistence of ineffective erythropoiesis in addition to erythrocyte transfusions may have exacerbated iron overload. Low serum hepcidin levels, in this case, might have been caused by decreased hepcidin production arising from fetal liver damage due to neonatal hemochromatosis and increased hepcidin-inhibiting hematopoietic mediators due to the ineffective hematopoiesis observed in thalassemia.
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キーワード | Neonatal hemochromatosis
Thalassemia
Liver transplantation
Gestational alloimmune liver disease
Case report
Hepcidin
Ineffective erythropoiesis
Growth differentiation factor-15
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発行日 | 2022-10-29
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出版物タイトル |
BMC Pediatrics
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巻 | 22巻
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号 | 1号
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出版者 | BMC
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開始ページ | 622
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ISSN | 1471-2431
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資料タイプ |
学術雑誌論文
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言語 |
英語
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OAI-PMH Set |
岡山大学
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著作権者 | © The Author(s) 2022.
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論文のバージョン | publisher
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PubMed ID | |
DOI | |
Web of Science KeyUT | |
関連URL | isVersionOf https://doi.org/10.1186/s12887-022-03706-3
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ライセンス | http://creativecommons.org/licenses/by/4.0/
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