Division of Pediatric Gastroenterology and Nutrition, Edmond & Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, 52621, Israel.
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Eur J Pediatr. 2024 Sep;183(9):4085-4091. doi: 10.1007/s00431-024-05668-3. Epub 2024 Jul 3.
Rett syndrome is a rare neurodevelopmental disorder associated with methyl CpG binding protein 2 (MECP2) gene mutations. We aimed to characterize the long-term nutritional and gastrointestinal course of Rett syndrome in a large national patient population.
We conducted a retrospective cohort study of patients followed during 1991-2021 at a national center for Rett syndrome. The data retrieved included clinical features, laboratory and genetic analyses. Continuous anthropometric measurements were calculated for the closest visit to the median ages: 2.5, 7.5, 12.5 and 17.5 years. Kaplan Meier curves were used to describe the appearance of clinical manifestations during the follow up period. Generalized estimating equation models were used to compare repeated measurements.
Included were 141 patients (139 females), the median age at the first visit was 3.2 years (interquartile range [IQR] 2.3-5.7), and the median length of follow-up was 94.5 months (IQR 28.6-153.3). Mean weight, height and BMI Z-scores were -1.09, -1.03 and -0.56, respectively, at median age 2.5 years; and deteriorated to -3.95, -3.01 and -1.19, respectively, at median age 17.5 years (P < 0.001). Gastrointestinal features included constipation (47.5%, 67/141) and chewing/feeding difficulties (20%, 28/141) at presentation; and an additional 47 (33.3%) and 24 (17.0%), respectively, during follow up. Twenty-eight patients (20%) developed aerophagia and 44 (31.2%) gastroesophageal reflux. No relation was found between genetic mutation types and clinical manifestations. GI manifestations were more prevalent in patients with typical form of Rett syndrome.
Anthropometric parameters were shown to deteriorate with age, regardless of the specific genetic mutation. Chewing/feeding difficulties, constipation and gastroesophageal reflux are common in Rett patients.
雷特综合征是一种罕见的神经发育障碍，与甲基化 CpG 结合蛋白 2（MECP2）基因突变有关。我们旨在描述大型国家雷特综合征患者群体的长期营养和胃肠道病程。
我们对 1991 年至 2021 年期间在国家雷特综合征中心接受治疗的患者进行了回顾性队列研究。检索的数据包括临床特征、实验室和基因分析。对于最接近中位数年龄的最近就诊，计算了连续的人体测量学测量值：2.5 岁、7.5 岁、12.5 岁和 17.5 岁。使用 Kaplan-Meier 曲线描述随访期间临床表现的出现情况。使用广义估计方程模型比较重复测量。
共纳入 141 例患者（139 例女性），首次就诊时的中位年龄为 3.2 岁（四分位距 [IQR] 2.3-5.7），中位随访时间为 94.5 个月（IQR 28.6-153.3）。中位数年龄为 2.5 岁时，平均体重、身高和 BMI Z 评分分别为-1.09、-1.03 和-0.56；而在中位数年龄为 17.5 岁时，分别恶化至-3.95、-3.01 和-1.19（P<0.001）。胃肠道特征包括便秘（47.5%，67/141）和咀嚼/喂养困难（20%，28/141）在就诊时出现；另外在随访期间分别有 47 例（33.3%）和 24 例（17.0%）出现这些症状。28 例（20%）患者发生气过水声，44 例（31.2%）患者发生胃食管反流。基因突变类型与临床表现之间未发现相关性。胃肠道表现更常见于典型雷特综合征患者。
无论特定基因突变如何，人体测量参数均随年龄恶化。咀嚼/喂养困难、便秘和胃食管反流在雷特综合征患者中很常见。
