Petryk Anna, Kanakatti Shankar Roopa, Giri Neelam, Hollenberg Anthony N, Rutter Meilan M, Nathan Brandon, Lodish Maya, Alter Blanche P, Stratakis Constantine A, Rose Susan R
Division of Pediatric Endocrinology (A.P., B.N.), University of Minnesota Masonic Children's Hospital, Minneapolis, Minnesota 55454; Department of Pediatrics (R.K.S.), Children's Hospital of Richmond at Virginia Commonwealth University, Richmond, Virginia 23229; Clinical Genetics Branch (N.G., B.P.A.), Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland 20850; Division of Endocrinology, Diabetes and Metabolism (A.N.H.), Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts 02215; Division of Endocrinology (M.M.R., S.R.R.), Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229; Pediatric Endocrinology Inter-Institute Training Program (M.L.), National Institutes of Health, Bethesda, Maryland 20892; and Section on Endocrinology and Genetics (M.L., C.A.S.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland 20892.
J Clin Endocrinol Metab. 2015 Mar;100(3):803-11. doi: 10.1210/jc.2014-4357. Epub 2015 Jan 9.
Endocrine problems are common in patients with Fanconi anemia (FA). About 80% of children and adults with FA have at least one endocrine abnormality, including short stature, GH deficiency, abnormal glucose or insulin metabolism, dyslipidemia, hypothyroidism, pubertal delay, hypogonadism, or impaired fertility. The goal of this report is to provide an overview of endocrine abnormalities and guidelines for routine screening and treatment to allow early diagnosis and timely intervention.
This work is based on a comprehensive literature review, including relevant articles published between 1971 and 2014, and proceedings of a Consensus Conference held by the Fanconi Anemia Research Fund in 2013.
The panel of experts collected published evidence and discussed its relevance to reflect current information about the endocrine care of children and adults with FA before the Consensus Conference and through subsequent deliberations that led to the consensus.
Individuals with FA should be routinely screened for endocrine abnormalities, including evaluation of growth; glucose, insulin, and lipid metabolism; thyroid function; puberty; gonadal function; and bone mineral metabolism. Inclusion of an endocrinologist as part of the multidisciplinary patient care team is key to providing comprehensive care for patients with FA.
内分泌问题在范可尼贫血（FA）患者中很常见。约80%的儿童和成人FA患者至少有一种内分泌异常，包括身材矮小、生长激素缺乏、葡萄糖或胰岛素代谢异常、血脂异常、甲状腺功能减退、青春期延迟、性腺功能减退或生育能力受损。本报告的目的是概述内分泌异常情况以及常规筛查和治疗指南，以便早期诊断和及时干预。
本研究基于全面的文献综述，包括1971年至2014年间发表的相关文章，以及范可尼贫血研究基金于2013年召开的共识会议的会议记录。
专家小组收集已发表的证据并讨论其相关性，以反映在共识会议之前以及随后达成共识的审议过程中有关FA儿童和成人内分泌护理的当前信息。
FA患者应常规筛查内分泌异常，包括生长评估；葡萄糖、胰岛素和脂质代谢；甲状腺功能；青春期；性腺功能；以及骨矿物质代谢。将内分泌科医生纳入多学科患者护理团队是为FA患者提供全面护理的关键。
