{"title":"伴有肝胆症状的小儿镰状细胞病--病例介绍和文献综述","authors":"Aditi Kumar, Rashmi Ranjan Behera, Samarendra Mahapatro, Ranjan Patel, Hemanta Nayak, Amit Kumar Satapathy","doi":"10.1186/s43054-024-00288-w","DOIUrl":null,"url":null,"abstract":"Sickle hepatopathy is the hepatobiliary dysfunction associated with sickle cell disease. It has a varied spectrum ranging from asymptomatic transaminasemia to gallstones or fulminant liver failure. Hepatobiliary manifestations may be the initial presentation in children with undiagnosed sickle cell disease as seen in our three index cases. This may mimic a primary liver disease, delaying definite diagnosis and management. We describe three cases. The first case was a 9-year-old girl child with cholecystitis with choledocholithiasis, the second case was a 15-year-old boy with acute hepatitis of unidentified aetiology, and the third case was a 3-month-old infant with neonatal cholestasis in absence of common structural or metabolic cause. All three cases had underlying haemolytic anaemia with splenomegaly and belonged to the sickle belt of the region. The final diagnosis in all three index cases was sickle cell disease with hepatopathy. The clinical syndrome of hepatitis or cholestasis with or without cholangitis in the background of splenomegaly and haemolytic anaemia should prompt screening for sickle cell disease.","PeriodicalId":43064,"journal":{"name":"Egyptian Pediatric Association Gazette","volume":null,"pages":null},"PeriodicalIF":0.5000,"publicationDate":"2024-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Paediatric sickle cell disease presenting with hepatobiliary symptoms—a case presentation and brief literature review\",\"authors\":\"Aditi Kumar, Rashmi Ranjan Behera, Samarendra Mahapatro, Ranjan Patel, Hemanta Nayak, Amit Kumar Satapathy\",\"doi\":\"10.1186/s43054-024-00288-w\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Sickle hepatopathy is the hepatobiliary dysfunction associated with sickle cell disease. It has a varied spectrum ranging from asymptomatic transaminasemia to gallstones or fulminant liver failure. Hepatobiliary manifestations may be the initial presentation in children with undiagnosed sickle cell disease as seen in our three index cases. This may mimic a primary liver disease, delaying definite diagnosis and management. We describe three cases. The first case was a 9-year-old girl child with cholecystitis with choledocholithiasis, the second case was a 15-year-old boy with acute hepatitis of unidentified aetiology, and the third case was a 3-month-old infant with neonatal cholestasis in absence of common structural or metabolic cause. All three cases had underlying haemolytic anaemia with splenomegaly and belonged to the sickle belt of the region. The final diagnosis in all three index cases was sickle cell disease with hepatopathy. The clinical syndrome of hepatitis or cholestasis with or without cholangitis in the background of splenomegaly and haemolytic anaemia should prompt screening for sickle cell disease.\",\"PeriodicalId\":43064,\"journal\":{\"name\":\"Egyptian Pediatric Association Gazette\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2024-06-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Egyptian Pediatric Association Gazette\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1186/s43054-024-00288-w\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Egyptian Pediatric Association Gazette","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/s43054-024-00288-w","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
Paediatric sickle cell disease presenting with hepatobiliary symptoms—a case presentation and brief literature review
Sickle hepatopathy is the hepatobiliary dysfunction associated with sickle cell disease. It has a varied spectrum ranging from asymptomatic transaminasemia to gallstones or fulminant liver failure. Hepatobiliary manifestations may be the initial presentation in children with undiagnosed sickle cell disease as seen in our three index cases. This may mimic a primary liver disease, delaying definite diagnosis and management. We describe three cases. The first case was a 9-year-old girl child with cholecystitis with choledocholithiasis, the second case was a 15-year-old boy with acute hepatitis of unidentified aetiology, and the third case was a 3-month-old infant with neonatal cholestasis in absence of common structural or metabolic cause. All three cases had underlying haemolytic anaemia with splenomegaly and belonged to the sickle belt of the region. The final diagnosis in all three index cases was sickle cell disease with hepatopathy. The clinical syndrome of hepatitis or cholestasis with or without cholangitis in the background of splenomegaly and haemolytic anaemia should prompt screening for sickle cell disease.
期刊介绍:
The Gazette is the official journal of the Egyptian Pediatric Association. The main purpose of the Gazette is to provide a place for the publication of high-quality papers documenting recent advances and new developments in both pediatrics and pediatric surgery in clinical and experimental settings. An equally important purpose of the Gazette is to publish local and regional issues related to children and child care. The Gazette welcomes original papers, review articles, case reports and short communications as well as short technical reports. Papers submitted to the Gazette are peer-reviewed by a large review board. The Gazette also offers CME quizzes, credits for which can be claimed from either the EPA website or the EPA headquarters. Fields of interest: all aspects of pediatrics, pediatric surgery, child health and child care. The Gazette complies with the Uniform Requirements for Manuscripts submitted to biomedical journals as recommended by the International Committee of Medical Journal Editors (ICMJE).