From the Perelman School of Medicine, University of Pennsylvania, PA.
the Department of Medicine, University of Pennsylvania, PA.
J Pediatr Gastroenterol Nutr. 2022 Aug 1;75(2):e8-e14. doi: 10.1097/MPG.0000000000003491. Epub 2022 Jun 1.
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion syndrome and has a multisystemic presentation including gastrointestinal features that have not yet been fully described. Our aim was to examine lifetime gastrointestinal problems in a large cohort of patients with 22q11.2DS.
All patients followed in the 22q and You Center at the Children's Hospital of Philadelphia (n = 1421) were retrospectively screened for: 1) age ≥ 17 years, 2) documented chromosomal microdeletion within the 22q11.2 LCR22A-LCR22D region, and 3) sufficient clinical data to characterize the adult gastrointestinal phenotype. Gastrointestinal problems in childhood, adolescence, and adulthood were summarized. Statistical association testing of symptoms against other patient characteristics was performed.
Included patients (n = 206; 46% female; mean age, 27 years; median follow-up, 21 years) had similar clinical characteristics to the overall cohort. Genetic distribution was also similar, with 96% having deletions including the critical LCR22A-LCR22B segment (95% in the overall cohort). Most patients experienced chronic gastrointestinal symptoms in their lifetime (91%), but congenital gastrointestinal malformations (3.5%) and gastrointestinal autoimmune diseases (1.5%) were uncommon. Chronic symptoms without anatomic or pathologic abnormalities represented the vast burden of illness. Chronic symptoms in adulthood are associated with other chronic gastrointestinal symptoms and psychiatric comorbidities ( P < 0.01) but not with deletion size or physiologic comorbidities ( P > 0.05). One exception was increased nausea/vomiting in hypothyroidism ( P = 0.002).
Functional gastrointestinal disorders (FGIDs) are a common cause of ill health in children and adults with 22q11.2DS. Providers should consider screening for the deletion in patients presenting with FGIDs and associated comorbidities such as neuropsychiatric illness, congenital heart disease, and palatal abnormalities.
22q11.2 缺失综合征（22q11.2DS）是最常见的染色体微缺失综合征，具有多系统表现，包括尚未充分描述的胃肠道特征。我们的目的是在一个大型 22q11.2DS 患者队列中检查终生胃肠道问题。
回顾性筛选费城儿童医院 22q 和 You 中心随访的所有患者（n=1421），满足以下条件：1）年龄≥17 岁，2）染色体微缺失位于 22q11.2 LCR22A-LCR22D 区域，3）有足够的临床数据来描述成人胃肠道表型。总结儿童期、青春期和成年期的胃肠道问题。对症状与其他患者特征的统计学关联进行检验。
纳入的患者（n=206；46%为女性；平均年龄 27 岁；中位随访时间 21 年）具有与整个队列相似的临床特征。基因分布也相似，96%的患者缺失包括关键的 LCR22A-LCR22B 片段（整个队列中 95%）。大多数患者一生中都经历过慢性胃肠道症状（91%），但先天性胃肠道畸形（3.5%）和胃肠道自身免疫性疾病（1.5%）少见。无解剖或病理异常的慢性症状是疾病的主要负担。成年期的慢性症状与其他慢性胃肠道症状和精神共病有关（P<0.01），但与缺失大小或生理共病无关（P>0.05）。一个例外是甲状腺功能减退症中恶心/呕吐增加（P=0.002）。
功能性胃肠道疾病（FGIDs）是 22q11.2DS 儿童和成人健康不良的常见原因。对于出现 FGIDs 及相关共病（如神经精神疾病、先天性心脏病和腭异常）的患者，应考虑筛查该缺失。
