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身材矮小的诊断与转诊

Short Stature Diagnosis and Referral.

作者信息

Maghnie Mohamad, Labarta José I, Koledova Ekaterina, Rohrer Tilman R

机构信息

Department of Pediatrics, IRCCS Children's Hospital Giannina Gaslini, University of Genoa, Genoa, Italy.

Endocrinology Unit, Children's Hospital Miguel Servet, University of Zaragoza, Zaragoza, Spain.

出版信息

Front Endocrinol (Lausanne). 2018 Jan 11;8:374. doi: 10.3389/fendo.2017.00374. eCollection 2017.

DOI:10.3389/fendo.2017.00374
PMID:29375479
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5768898/
Abstract

The "360° GH in Europe" meeting, which examined various aspects of GH diseases, was held in Lisbon, Portugal, in June 2016. The Merck KGaA (Germany) funded meeting comprised three sessions entitled "," "," and "." Each session had three speaker presentations, followed by a discussion period, and is reported as a manuscript, authored by the speakers. The first session examined current processes of diagnosis and referral by endocrine specialists for pediatric patients with short stature. Requirements for referral vary widely, by country and by patient characteristics such as age. A balance must be made to ensure eligible patients get referred while healthcare systems are not over-burdened by excessive referrals. Late referral and diagnosis of non-GH deficiency conditions can result in increased morbidity and mortality. The consequent delays in making a diagnosis may compromise the effectiveness of GH treatment. Algorithms for growth monitoring and evaluation of skeletal disproportions can improve identification of non-GH deficiency conditions. Performance and validation of guidelines for diagnosis of GH deficiency have not been sufficiently tested. Provocative tests for investigation of GH deficiency remain equivocal, with insufficient information on variations due to patient characteristics, and cutoff values for definition differ not only by country but also by the assay used. When referring and diagnosing causes of short stature in pediatric patients, clinicians need to rely on many factors, but the most essential is clinical experience.

摘要

“欧洲360°生长激素(GH)”会议于2016年6月在葡萄牙里斯本举行,该会议探讨了生长激素疾病的各个方面。德国默克集团资助了此次会议,会议包括三场分别名为“……”“……”和“……”的分会。每场分会有三位发言人进行报告,之后是讨论环节,会议内容以稿件形式呈现,由发言人撰写。第一场分会探讨了内分泌专家对身材矮小的儿科患者进行诊断和转诊的当前流程。转诊要求因国家以及患者特征(如年龄)的不同而有很大差异。必须在确保符合条件的患者得到转诊的同时,避免医疗系统因过多转诊而不堪重负。对非生长激素缺乏症的延迟转诊和诊断可能会导致发病率和死亡率上升。诊断的延迟可能会影响生长激素治疗的效果。生长监测算法和骨骼比例评估可改善对非生长激素缺乏症的识别。生长激素缺乏症诊断指南的性能和验证尚未得到充分测试。用于调查生长激素缺乏症的激发试验结果仍不明确,关于因患者特征导致的差异信息不足,而且定义的临界值不仅因国家不同而有所差异,还因所使用的检测方法而异。在转诊和诊断儿科患者身材矮小的病因时,临床医生需要考虑许多因素,但最关键的是临床经验。

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本文引用的文献

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Front Endocrinol (Lausanne). 2017 Nov 20;8:313. doi: 10.3389/fendo.2017.00313. eCollection 2017.
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Baseline Characteristics and Gender Differences in Prepubertal Children Treated with Growth Hormone in Europe, USA, and Japan: 25 Years' KIGS® Experience (1987-2012) and Review.欧洲、美国和日本接受生长激素治疗的青春期前儿童的基线特征及性别差异:25年KIGS®经验(1987 - 2012年)及综述
Horm Res Paediatr. 2017;87(1):30-41. doi: 10.1159/000452887. Epub 2016 Dec 3.
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Guidelines for Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents: Growth Hormone Deficiency, Idiopathic Short Stature, and Primary Insulin-Like Growth Factor-I Deficiency.儿童和青少年生长激素与胰岛素样生长因子-I治疗指南:生长激素缺乏症、特发性身材矮小和原发性胰岛素样生长因子-I缺乏症
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Growth Horm IGF Res. 2016 Aug;29:63-70. doi: 10.1016/j.ghir.2016.04.006. Epub 2016 Apr 29.
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