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新亚专科的成长与发展:小儿肝病学。

Growth and development of a new subspecialty: pediatric hepatology.

机构信息

Department of Pediatrics, University of Cincinnati College of Medicine, Pediatric Liver Care Center, Cincinnati Children's Hospital Medical Center (CCHMC), Cincinnati, OH, USA.

出版信息

Hepatology. 2013 Aug;58(2):458-76. doi: 10.1002/hep.26580.

DOI:10.1002/hep.26580
PMID:23788321
Abstract

Several major forces converged to catalyze the formal emergence of a body of knowledge and an organized focus on disorders of the liver in early life. Attendant to the development of a focused clinical subspecialty the pace of patient- and laboratory-based research in the field quickened in parallel to decipher the consequences of genetic or metabolic aberrations on immature liver structure and function. The key research observations that catalyzed the emergence and subsequent rapid growth of Pediatric Hepatology include: (1) an understanding of the dynamic events occurring during hepatobiliary development and the importance of these physiologic variables that occur during liver maturation; (2) the recognition of the unique nature of inherited and acquired liver diseases that affect infants and children-such as biliary atresia and Reye's syndrome; and (3) redefinition of the once obscure inherited intrahepatic cholestatic diseases of the liver, which, in turn, provided insight into normal and abnormal hepatobiliary physiology. The clinical advances were highlighted by the development of specific approaches to the diagnosis and management of liver disease in infants and children, including both liver transplantation and nontransplant treatment options. These seminal events led to the expansion of the workforce, creating a critical mass consisting of individuals with focused, specialized skills and techniques. In-depth expertise allowed more accurate diagnosis and highly effective treatment strategies for advanced hepatobiliary disease in children. The demand for pediatric clinicians with experience in advanced hepatology allowed sub-sub-specialization to flourish. Continued maturation of the field led to definition of hepatology-focused curricular elements and educational content for Pediatric Gastroenterology training programs, and subsequently the development of program requirements for those who wished to acquire additional training in Pediatric Hepatology. A significant rite of passage was marked by the election of pediatric hepatologists to leadership positions in the American Association for the Study of Liver Diseases (AASLD). Further validation of the field occurred with approval of the petition for establishing a Certificate of Added Qualification in Transplant Hepatology by the American Board of Pediatrics. Here I relate my perspective on the history of the advances in our field and the contributions of many of the clinicians and scientists whose efforts led to the development of focused clinical, research, and training programs that improved the care of children with diseases of the liver.

摘要

几种主要力量汇聚在一起,促成了知识体系的正式形成和对生命早期肝脏疾病的关注。随着专注于临床亚专业的发展,该领域以患者和实验室为基础的研究步伐也在加快,旨在破译遗传或代谢异常对未成熟肝脏结构和功能的影响。促成儿科学诞生并随后迅速发展的关键研究观察结果包括:(1)了解发生在肝胆发育过程中的动态事件以及这些生理变量在肝脏成熟过程中的重要性;(2)认识到影响婴儿和儿童的遗传和获得性肝脏疾病的独特性质,如胆道闭锁和瑞氏综合征;(3)重新定义曾经模糊的肝脏内胆汁淤积性遗传疾病,这反过来又为正常和异常肝胆生理学提供了深入了解。临床进展的特点是针对婴儿和儿童肝病的诊断和管理制定了具体方法,包括肝移植和非移植治疗选择。这些开创性事件导致劳动力的扩大,创造了一个由具有专注、专业技能和技术的个人组成的关键群体。深入的专业知识为儿童晚期肝胆疾病提供了更准确的诊断和高度有效的治疗策略。对具有高级肝病学经验的儿科临床医生的需求使得亚专业得以蓬勃发展。该领域的持续成熟导致了儿科胃肠病学培训计划中针对肝脏学的课程要素和教育内容的定义,并随后为那些希望在小儿肝脏学方面获得额外培训的人制定了项目要求。儿科学者在美国肝病研究协会 (AASLD) 中担任领导职务标志着这一领域的一个重要里程碑。该领域的进一步验证是美国儿科学会批准了建立移植肝脏学附加资格证书的申请。在这里,我从我个人的角度来讲述我们领域的发展历史,以及许多临床医生和科学家的贡献,他们的努力促成了专注于临床、研究和培训项目的发展,从而改善了患有肝脏疾病的儿童的护理。

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JGH Open. 2019 Dec 5;4(3):484-489. doi: 10.1002/jgh3.12286. eCollection 2020 Jun.
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Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3.
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