본문 바로가기
KERD
논문KCI 등재

Beta Thalassemia Presenting with Neonatal Cholestasis and Extensive Hemosiderosis: A Case Report

2

조회

0

다운로드

0

인용

0

참고문헌

키워드

초록

Neonatal cholestasis is caused by various forms of liver injury and has a complex etiological background. Among these, cases of severe cholestasis due to primary hemolytic disease are rare. Herein, we report a case in which thalassemia-induced severe hemolysis caused bile duct injury by hemosiderosis, with cholestasis occurring shortly after birth and lasting for >4 months. In addition, complete recovery of liver pathology was observed both biochemically and histologically. Hence, clinicians should consider hemolytic disease as a rare cause of neonatal cholestasis in the differential diagnosis of neonates as well as the advisability of conservative treatment based on case progression.

Abstract

Neonatal cholestasis is caused by various forms of liver injury and has a complex etiological background. Among these, cases of severe cholestasis due to primary hemolytic disease are rare. Herein, we report a case in which thalassemia-induced severe hemolysis caused bile duct injury by hemosiderosis, with cholestasis occurring shortly after birth and lasting for >4 months. In addition, complete recovery of liver pathology was observed both biochemically and histologically. Hence, clinicians should consider hemolytic disease as a rare cause of neonatal cholestasis in the differential diagnosis of neonates as well as the advisability of conservative treatment based on case progression.

참고문헌 (18)

  1. Fawaz R, "Guideline for the evaluation of cholestatic jaundice in infants: joint recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition", J Pediatr Gastroenterol Nutr, 64, pp.154~168 (2017)
  2. Lane E, "Neonatal cholestasis", Pediatr Clin North Am, 64, pp.621~639 (2017)
  3. Gotze T, "Neonatal cholestasis: differential diagnoses, current diagnostic procedures, and treatment", Front Pediatr, 3, pp.43~ (2015)
  4. Gottesman LE, "Etiologies of conjugated hyperbilirubinemia in infancy : a systematic review of 1692 subjects", BMC Pediatr, 15, pp.192~ (2015)
  5. Teng J, "Population-based incidence and risk factors for cholestasis in hemolytic disease of the fetus and newborn", J Perinatol, 42, pp.702~707 (2022)
  6. Cao A, "Beta-thalassemia", Genet Med, 12, pp.61~76 (2010)
  7. 이현지, "Increased Prevalence of Thalassemia in Young People in Korea: Impact of Increasing Immigration", Annals of Laboratory Medicine, 39(2), pp.133~140 (2019), 대한진단검사의학회[DOI]
  8. Lee JS, "Epidemiologic trends of thalassemia, 2006-2018: a nationwide population-based study", J Clin Med, 11, pp.2289~ (2022)
  9. 홍채리, "Clinical Characteristics of Pediatric Thalassemia in Korea:A Single Institute Experience", Journal of Korean Medical Science, 28(11), pp.1645~1649 (2013), 대한의학회
  10. Bender MA, "Newborn screening practices for beta-thalassemia in the United States", Int J Neonatal Screen, 7, pp.83~ (2021)
  11. Qin LQ, "Application of DNA microarray in genetic mutation detection in patients with thalassemia", Zhongguo Shi Yan Xue Ye Xue Za Zhi, 29, pp.1561~1565 (2021)
  12. Rizvi SA, "Acute liver failure in a sickle cell patient", J Pediatr Gastroenterol Nutr, 72, pp.e54~e55 (2021)
  13. Kotch C, "Conservative management of alloimmune hemolysis and cholestasis with extreme laboratory abnormalities", Pediatrics, 147, pp.e20193367~ (2021)
  14. Saeed O, "The histopathologic features of sickle cell hepatopathy : a multi-institutional study", Am J Clin Pathol, 157, pp.73~81 (2022)
  15. Silver MM, "Hepatic morphology and iron quantitation in perinatal hemochromatosis:comparison with a large perinatal control population, including cases with chronic liver disease", Am J Pathol, 143, pp.1312~1325 (1993)
  16. Smith SR, "Minor salivary gland biopsy in neonatal hemochromatosis", Arch Otolaryngol Head Neck Surg, 130, pp.760~763 (2004)
  17. Chavhan GB, "Magnetic resonance imaging of neonatal hemochromatosis", Pediatr Radiol, 52, pp.334~339 (2022)
  18. Kountouras D, "Liver disease in adult transfusiondependent beta-thalassaemic patients : investigating the role of iron overload and chronic HCV infection", Liver Int, 33, pp.420~427 (2013)

관련 논문AI추천

A Case of Idiopathic Congenital Neonatal Cholestasis in a Patient with Down Syndrome박은실, 박찬후, 서지현, 우향옥, 윤희상, 임재영, Hyun Jeong Do, Ji Sook Park, Jung Sook Yeom, Tae-eon Huh대한소아소화기영양학회 · Pediatric Gastroenterology, Hepatology & Nutrition2012 · 제15권 제2호Living Related Liver Transplantation in an Infant with Neonatal Hemochromatosis강경훈, 고재성, 김우선, 문진수, 이남준, Jong Sub Choi, Jung Kyung Yoo, Peter Chun, Shin Jie Choi대한소아소화기영양학회 · Pediatric Gastroenterology, Hepatology & Nutrition2016 · 제19권 제2호Hemorrhagic Diathesis as the Presenting Symptom of Neonatal CholestasisLiesbeth Claire Faverey, Yvan Vandenplas대한소아소화기영양학회 · Pediatric Gastroenterology, Hepatology & Nutrition2014 · 제17권 제3호The Clinicopathological Parameters for Making the Differential Diagnosis of Neonatal Cholestasis강준규, 김경모, 유은실, 이희진, 장세진, 장주영대한병리학회 · Journal of Pathology and Translational Medicine2009 · 제43권 제1호Coexistence of Gilbert Syndrome and Hereditary Spherocytosis in a Child Presenting with Extreme Jaundice문경래, 이재희대한소아소화기영양학회 · Pediatric Gastroenterology, Hepatology & Nutrition2014 · 제17권 제4호Neonatal Hemolytic Disease Caused by Anti-e and Anti-C Antibodies Treated with Intensive Phototherapy: A Case ReportGihoon Jung, Hyun Ho Kim, Jin Kyu Kim, Sun Jun Kim대한신생아학회 · Neonatal medicine2023 · 제30권 제3호

이 간행물의 다른 논문 (3건)