Auchus Richard J, Witchel Selma Feldman, Leight Kelly R, Aisenberg Javier, Azziz Ricardo, Bachega Tânia A, Baker Linda A, Baratz Arlene B, Baskin Laurence S, Berenbaum Sheri A, Breault David T, Cerame Barbara I, Conway Gerard S, Eugster Erica A, Fracassa Stephanie, Gearhart John P, Geffner Mitchell E, Harris Katharine B, Hurwitz Richard S, Katz Aviva L, Kalro Brinda N, Lee Peter A, Alger Lin Gretchen, Loechner Karen J, Marshall Ian, Merke Deborah P, Migeon Claude J, Miller Walter L, Nenadovich Tamara L, Oberfield Sharon E, Pass Kenneth A, Poppas Dix P, Lloyd-Puryear Michele A, Quigley Charmian A, Riepe Felix G, Rink Richard C, Rivkees Scott A, Sandberg David E, Schaeffer Traci L, Schlussel Richard N, Schneck Francis X, Seely Ellen W, Snyder Diane, Speiser Phyllis W, Therrell Bradford L, Vanryzin Carol, Vogiatzi Maria G, Wajnrajch Michael P, White Perrin C, Zuckerman Alan E
Division of Endocrinology, Department of Medicine, University of Texas Southwestern Medical School, Dallas, TX 75390, USA.
Int J Pediatr Endocrinol. 2010;2010:275213. doi: 10.1155/2010/275213. Epub 2011 Jan 10.
Patients with rare and complex diseases such as congenital adrenal hyperplasia (CAH) often receive fragmented and inadequate care unless efforts are coordinated among providers. Translating the concepts of the medical home and comprehensive health care for individuals with CAH offers many benefits for the affected individuals and their families. This manuscript represents the recommendations of a 1.5 day meeting held in September 2009 to discuss the ideal goals for comprehensive care centers for newborns, infants, children, adolescents, and adults with CAH. Participants included pediatric endocrinologists, internal medicine and reproductive endocrinologists, pediatric urologists, pediatric surgeons, psychologists, and pediatric endocrine nurse educators. One unique aspect of this meeting was the active participation of individuals personally affected by CAH as patients or parents of patients. Representatives of Health Research and Services Administration (HRSA), New York-Mid-Atlantic Consortium for Genetics and Newborn Screening Services (NYMAC), and National Newborn Screening and Genetics Resource Center (NNSGRC) also participated. Thus, this document should serve as a "roadmap" for the development phases of comprehensive care centers (CCC) for individuals and families affected by CAH.
患有先天性肾上腺皮质增生症（CAH）等罕见复杂疾病的患者，除非医疗服务提供者之间进行协调，否则往往会得到零散且不充分的治疗。将医疗之家和全面医疗保健的理念应用于CAH患者，对受影响的个体及其家庭有诸多益处。本手稿代表了2009年9月召开的一次为期1.5天会议的建议，该会议旨在讨论为患有CAH的新生儿、婴儿、儿童、青少年和成人设立的综合护理中心的理想目标。与会者包括儿科内分泌学家、内科和生殖内分泌学家、儿科泌尿科医生、儿科外科医生、心理学家以及儿科内分泌护士教育工作者。此次会议的一个独特之处在于，受CAH影响的患者本人或患者家长积极参与其中。卫生研究与服务管理局（HRSA）、纽约 - 中大西洋遗传学与新生儿筛查服务联盟（NYMAC）以及国家新生儿筛查与遗传学资源中心（NNSGRC）的代表也参加了会议。因此，本文件应作为受CAH影响的个人和家庭综合护理中心（CCC）发展阶段的“路线图”。
