儿童β地中海贫血重型合并肝硬化1例病例报道及文献复习
A Case of Children β-Thalassemia Major Complicated with Liver Cirrhosis and Literature Review
DOI: 10.12677/acm.2024.1441025, PDF,   
作者: 王盈盈*, 于 洁#:重庆医科大学附属儿童医院血液肿瘤科,重庆
关键词: 儿童重型β地中海贫血铁过载肝硬化祛铁Child β-Thalassemia Major Iron Overload Liver Cirrhosis Iron Chelation
摘要: 报道1例儿童重型β地中海贫血合并肝硬化病例,患者婴儿期确诊为重型β地中海贫血,长期输血治疗,后诊断为铁过载,因祛铁治疗不规范8岁多即出现消化道功能障碍、肝硬化,属于罕见病例。患儿起病年龄小,本病例报道旨在引发我们对儿童重型地中海贫血铁过载及其规范治疗的再思考和重视。
Abstract: This study reports a case of β-Thalassemia Major combined with cirrhosis in a child. The patient was diagnosed with β-Thalassemia Major during infancy and was later diagnosed with iron overload after long-term blood transfusion treatment. The child developed digestive tract dysfunction and cirrhosis in 8 years due to non-standard iron chelation. This case is a rare case. The onset age of the patient is young, and this case report aims to provoke further reflection and attention on iron overload and standardized treatment of severe thalassemia in children.
文章引用:王盈盈, 于洁. 儿童β地中海贫血重型合并肝硬化1例病例报道及文献复习[J]. 临床医学进展, 2024, 14(4): 325-330. https://doi.org/10.12677/acm.2024.1441025

参考文献

[1] Taher, A.T., Musallam, K.M. and Cappellini, M.D. (2021) β-Thalassemias. The New England Journal of Medicine, 384, 727-743. [Google Scholar] [CrossRef
[2] Taher, A.T., Weatherall, D.J. and Cappellini, M.D. (2018) Thalassaemia. The Lancet, 391, 155-167. [Google Scholar] [CrossRef
[3] Moukhadder, H.M., Halawi, R., Cappellini, M.D. and Taher, A.T. (2017) Hepatocellular Carcinoma as an Emerging Morbidity in the Thalassemia Syndromes: A Comprehensive Review. Cancer, 123, 751-758. [Google Scholar] [CrossRef] [PubMed]
[4] Borgna-Pignatti, C., Vergine, G., Lombardo, T., et al. (2004) Hepatocellular Carcinoma in the Thalassaemia Syndromes. British Journal of Haematology, 124, 114-117. [Google Scholar] [CrossRef] [PubMed]
[5] Borgna-Pignatti, C., Garani, M.C., Forni, G.L., et al. (2014) Hepatocellular Carcinoma in Thalassaemia: An Update of the Italian Registry. British Journal of Haematology, 167, 121-126. [Google Scholar] [CrossRef] [PubMed]
[6] Yao, X.Y., Yu, J., Chen, S.P., et al. (2013) Prevalence and Genetic Analysis of α-Thalassemia and β-Thalassemia in Chongqing Area of China. Gene, 532, 120-124. [Google Scholar] [CrossRef] [PubMed]
[7] Nemeth, E. and Ganz, T. (2023) Hepcidin and Iron in Health and Disease. Annual Review of Medicine, 74, 261-277. [Google Scholar] [CrossRef] [PubMed]
[8] Camaschella, C., Nai, A. and Silvestri, L. (2020) Iron Metabolism and Iron Disorders Revisited in the Hepcidin Era. Haematologica, 105, 260-272. [Google Scholar] [CrossRef] [PubMed]
[9] 中华医学会血液学分会/中国医师协会血液科医师分会. 铁过载诊断与治疗的中国专家共识[J]. 中华血液学杂志, 2011, 32(8): 572-574.
[10] Miya, T., Kondo, H. and Gemma, A. (2018) Serum Iron Levels Increased by Cancer Chemotherapy Correlate the Chemotherapy-Induced Nausea and Vomiting. International Journal of Clinical Oncology, 23, 1196-1200. [Google Scholar] [CrossRef] [PubMed]
[11] Voskaridou, E., Ladis, V., Kattamis, A., et al. (2012) A National Registry of Haemoglobinopathies in Greece: Deducted Demographics, Trends in Mortality and Affected Births. Annals of Hematology, 91, 1451-1458. [Google Scholar] [CrossRef] [PubMed]
[12] Sindrilaru, A., Peters, T., Wieschalka, S., et al. (2011) An Unrestrained Proinflammatory M1 Macrophage Population Induced by Iron Impairs Wound Healing in Humans and Mice. Journal of Clinical Investigation, 121, 985-997. [Google Scholar] [CrossRef
[13] Ruddell, R.G., Hoang-Le, D., Barwood, J.M., et al. (2009) Ferritin Functions as a Proinflammatory Cytokine via Iron-Independent Protein Kinase C Zeta/Nuclear Factor KappaB-Regulated Signaling in Rat Hepatic Stellate Cells. Hepatology, 49, 887-900. [Google Scholar] [CrossRef] [PubMed]
[14] Leone, V., Ali, A., Weber, A., Tschaharganeh, D.F. and Heikenwalder, M. (2021) Liver Inflammation and Hepatobiliary Cancers. Trends Cancer, 7, 606-623. [Google Scholar] [CrossRef] [PubMed]
[15] Dixon, S.J. and Stockwell, B.R. (2014) The Role of Iron and Reactive Oxygen Species in Cell Death. Nature Chemical Biology, 10, 9-17. [Google Scholar] [CrossRef] [PubMed]
[16] Poli, G. (2000) Pathogenesis of Liver Fibrosis: Role of Oxidative Stress. Molecular Aspects of Medicine, 21, 49-98. [Google Scholar] [CrossRef
[17] Turlin, B., Juguet, F., Moirand, R., et al. (1995) Increased Liver Iron Stores in Patients with Hepatocellular Carcinoma Developed on a Noncirrhotic Liver. Hepatology, 22, 446-450. [Google Scholar] [CrossRef] [PubMed]
[18] Zanella, S., Garani, M.C. and Borgna-Pignatti, C. (2016) Malignancies and Thalassemia: A Review of the Literature. Annals of the New York Academy of Sciences, 1368, 140-148. [Google Scholar] [CrossRef] [PubMed]
[19] Pipaliya, N., Solanke, D., Parikh, P., et al. (2017) Comparison of Tissue Elastography with Magnetic Resonance Imaging T2* and Serum Ferritin Quantification in Detecting Liver Iron Overload in Patients with Thalassemia Major. Clinical Gastroenterology and Hepatology, 15, 292-298.E1. [Google Scholar] [CrossRef] [PubMed]
[20] Tsitsikas, D.A., Nzouakou, R., Ameen, V., Sirigireddy, B. and Amos, R.J. (2014) Comparison of Serial Serum Ferritin Measurements and Liver Iron Concentration Assessed by MRI in Adult Transfused Patients with Sickle Cell Disease. European Journal of Haematology, 92, 164-167. [Google Scholar] [CrossRef] [PubMed]
[21] 张倩, 侯波, 王璐, 等. 磁共振成像技术定量检测铁过载的临床意义[J]. 中华医学杂志, 2013, 93(44): 3506-3509.
[22] 中华医学会血液学分会红细胞疾病(贫血)学组. 中国输血依赖型β地中海贫血诊断与治疗指南(2022年版) [J]. 中华血液学杂志, 2022, 43(11): 889-896.
[23] Farmakis, D., Porter, J., Taher, A., Domenica Cappellini, M., Angastiniotis, M. and Eleftheriou, A. (2022) 2021 Thalassaemia International Federation Guidelines for the Management of Transfusion-Dependent Thalassemia. Hemasphere, 6, E732. [Google Scholar] [CrossRef
[24] Kontoghiorghes, G.J. (2023) Iron Load Toxicity in Medicine: From Molecular and Cellular Aspects to Clinical Implications. International Journal of Molecular Sciences, 24, Article No. 12928. [Google Scholar] [CrossRef] [PubMed]
[25] Parakh, N. and Chandra, J. (2022) Correlation of Transient Elastography with MRI T2* and Serum Ferritin Levels in Children with Transfusion-Dependent Thalassemia. Indian Pediatrics, 59, 929-932. [Google Scholar] [CrossRef
[26] Bacon, B.R., Adams, P.C., Kowdley, K.V., Powell, L.W., Tavill, A.S. and American Association for the Study of Liver Diseases (2011) Diagnosis and Management of Hemochromatosis: 2011 Practice Guideline by the American Association for the Study of Liver Diseases. Hepatology, 54, 328-343. [Google Scholar] [CrossRef] [PubMed]
[27] Pepe, A., Meloni, A., Rossi, G., et al. (2013) Cardiac and Hepatic Iron and Ejection Fraction in Thalassemia Major: Multicentre Prospective Comparison of Combined Deferiprone and Deferoxamine Therapy against Deferiprone or Deferoxamine Monotherapy. Journal of Cardiovascular Magnetic Resonance, 15, 1. [Google Scholar] [CrossRef
[28] Deugnier, Y., Turlin, B., Ropert, M., et al. (2011) Improvement in Liver Pathology of Patients with β-Thalassemia Treated with Deferasirox for at Least 3 Years [Published Correction Appears in Gastroenterology. 2012 Jan; 142(1): 186]. Gastroenterology, 141, 1202-1211.E12113. [Google Scholar] [CrossRef] [PubMed]