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首页> 外文期刊>American journal of medical genetics, Part A >Gastrointestinal phenotype of ATR-X syndrome.
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Gastrointestinal phenotype of ATR-X syndrome.

机译：ATR-X综合征的胃肠道表型。

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摘要

X-linked alpha thalassemia mental retardation (ATR-X) syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities, and alpha thalassemia. Patients with ATR-X syndrome frequently present with gastrointestinal problems, in particular feeding difficulties, regurgitation and vomiting, abdominal pain, distension, and chronic constipation. Parental reports of prolonged food refusal and distress in these children are common and although these episodes are suspected to be gastro-intestinal in origin they are rarely investigated. Death in early childhood from aspiration of vomitus or from pneumonia presumed to be secondary to aspiration has been recorded in a number of ATR-X cases. In this report we review the gastrointestinal phenotype of ATR-X syndrome in 128 cases. We also demonstrate that in two siblings, regurgitation was secondary to gastric pseudo-volvulus, a condition in which the stomach does not have a normal system of peritoneal ligaments and changes position with possible torsion around itself. Furthermore, ultra-short Hirschsprung disease with colonic hypoganglionosis was shown and this may contribute to the severe constipation affecting these children.
机译：X连锁的α地中海贫血智力低下（ATR-X）综合征与严重的发育迟缓，面部畸形，生殖器异常和α地中海贫血有关。 ATR-X综合征患者经常出现胃肠道问题，特别是进食困难，反流和呕吐，腹痛，腹胀和慢性便秘。父母对这些孩子长期拒绝食物和痛苦的报道很普遍，尽管怀疑这些事件起源于胃肠道，但很少进行调查。在许多ATR-X病例中，已经记录了由于呕吐或推测是继发于吸入性肺炎引起的幼儿死亡。在本报告中，我们回顾了128例ATR-X综合征的胃肠道表型。我们还证明，在两个兄弟姐妹中，胃反流是继发于胃假肠扭转的一种情况，在这种情况下，胃不具有正常的腹膜韧带系统，并且其周围可能发生扭转而改变了位置。此外，还显示了患有结肠神经节神经节减退的超短型Hirschsprung疾病，这可能导致严重的便秘影响了这些儿童。

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