唐氏综合征患者乳糜泻的概况

A. Rodríguez Martínez, B. Espín Jaime, A. González-Meneses López, M. González Fernández-Palacios, A. Pizarro Martín, I. Gómez de Terreros Sánchez
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摘要

唐氏综合征(DS)患者是乳糜泻(CD)的主要危险人群。本研究的目的是找出这组患者的乳糜泻特征的差异,以便采取不同的医疗方法。患者和方法本观察性、描述性和比较性研究纳入了1999年1月至2008年12月期间监测的81例15岁以下患者。患者被分为两组,第一组包括28名患有乳糜泻和退行性变性的儿童,第二组包括53名患有乳糜泻但没有退行性变性的儿童。回顾性分析病历资料。结果两组患者在诊断年龄、临床表现、诊断症状、体格测量、血清学指标、组织学资料等方面差异均无统计学意义。DS组的成员明显没有乳糜泻家族史或与自身免疫性甲状腺炎相关。DS组开始母乳喂养的频率较低,并且引入谷蛋白的时间明显推迟。遗传学研究显示,SD患者中DQ8异源二聚体的频率显著较高。结论退行性椎体滑移患儿CD的临床表现与非退行性椎体滑移患儿相似。本研究中DS个体的异源二聚体风险分布与已发表的数据不同。这一人群的某些营养特征可能会引发新的危险因素,从而引发乳糜泻的发病。
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Perfil de la enfermedad celíaca en los pacientes con síndrome de Down

Introduction and objective

Individuals with Down syndrome (DS) are a major risk group for coeliac disease (CD). The aim of this study is to find differences in the CD profile in this group in order to take a different medical approach.

Patients and methods

This observational, descriptive and comparative study included 81 patients aged under 15 years monitored between January 1999 and December 2008. Patients were divided into two groups, a first group including 28 children with CD and DS, and a second age- and sex-matched group of 53 children with CD and no DS. Retrospective data from medical records were analyzed.

Results

There were no statistically significant differences in age at diagnosis, clinical presentation, symptoms at diagnosis, body measurements, serological markers and histological data. Members of the DS group were significantly likelier to have no family history of CD or an association with autoimmune thyroiditis. Breastfeeding was initiated less frequently in the DS group, and the introduction of gluten was significantly delayed. The genetic study showed a significantly high frequency of the DQ8 heterodimer in patients with SD.

Conclusions

The clinical profile of CD in children with DS appears to be similar to that for children without this condition. The risk heterodimer distribution in DS individuals in this series differs from published data. Some nutritional features in this population could entail new risk factors that might trigger the onset of CD.

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Mielopatía avanzada en personas con síndrome de Down Revista Médica Internacional sobre el Síndrome de Down: nuestra revista Fisiopatología y manejo de la xerosis y alteraciones orales en pacientes con trisomía 21 Revista Médica Internacional sobre el Síndrome de Down: nuestra revista Fisiopatología y manejo de la xerosis y alteraciones orales en pacientes con trisomía 21
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