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我们应该如何对生长发育迟缓的儿童进行调查?

How should we investigate children with growth failure?

作者信息

Léger Juliane

机构信息

Unité 1141, DHU Protect, service d'endocrinologie diabétologie pédiatrique, centre de référence des maladies endocriniennes de la croissance et du développement, Institut national de la santé et de la recherche médicale (Inserm), université Paris Diderot, Sorbonne Paris Cité, hôpital Robert-Debré, Assistance publique-Hôpitaux de Paris, 48, boulevard Sérurier, 75019 Paris, France.

出版信息

Ann Endocrinol (Paris). 2017 Jun;78(2):106-107. doi: 10.1016/j.ando.2017.04.008. Epub 2017 Apr 28.

DOI:10.1016/j.ando.2017.04.008
PMID:28457480
Abstract

The early diagnosis of short stature is essential for effective management and treatment. Investigations for children with growth failure are required to distinguish between idiopathic short stature due to physiological variants (familial short stature, and constitutional delays of growth and puberty, or both), primary causes of short stature, such as syndromic and/or genetic defects and skeletal dysplasia, and secondary growth deficits due to endocrine or other chronic disorders such as celiac disease, Crohn's disease, malnutrition, renal, anorexia nervosa or other chronic diseases.

摘要

身材矮小的早期诊断对于有效管理和治疗至关重要。对于生长发育迟缓的儿童,需要进行相关检查,以区分因生理变异导致的特发性身材矮小(家族性身材矮小、生长和青春期体质性延迟或两者皆有)、身材矮小的主要原因,如综合征性和/或基因缺陷以及骨骼发育异常,以及由内分泌或其他慢性疾病(如乳糜泻、克罗恩病、营养不良、肾脏疾病、神经性厌食症或其他慢性疾病)引起的继发性生长缺陷。

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1
How should we investigate children with growth failure?我们应该如何对生长发育迟缓的儿童进行调查?
Ann Endocrinol (Paris). 2017 Jun;78(2):106-107. doi: 10.1016/j.ando.2017.04.008. Epub 2017 Apr 28.
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Bone dysplasia.骨发育异常
Ann Endocrinol (Paris). 2017 Jun;78(2):114-122. doi: 10.1016/j.ando.2017.04.011. Epub 2017 May 8.
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Short stature: evaluation and treatment.身材矮小:评估与治疗
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Etiologies and early diagnosis of short stature and growth failure in children and adolescents.儿童和青少年身材矮小和生长障碍的病因和早期诊断。
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Genetic short stature.遗传性身材矮小
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Evaluating the child with short stature.评估身材矮小的儿童。
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Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment.孤立性SHOX基因单倍剂量不足所致身材矮小:诊断与治疗的最新进展
Pediatr Endocrinol Rev. 2010 Dec;8(2):79-85.
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How to investigate a child with excessive growth?如何对生长过速的儿童进行检查?
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Genetic evaluation in children with short stature.儿童身材矮小的遗传评估。
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