ROHHAD 综合征患者接受减肥手术后,肠道微生物组的变化伴随着代谢正常化。

JCEM case reports Pub Date : 2024-06-03 eCollection Date: 2024-06-01 DOI:10.1210/jcemcr/luae091
Alessandra Granato, Paul M Ryan, Anthony Wong, Jill K Hamilton, Jayne S Danska
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引用次数: 0

摘要

儿童期快速肥胖伴通气不足、下丘脑和自律神经失调综合征(ROHHAD)的特点是体重突然增加和自律神经失调,并伴有不同程度的神经内分泌受累。在缺乏明确的疾病改变疗法的情况下,主要的治疗策略仍然是控制症状。本病例报告描述了一名 ROHHAD 患者在接受 Roux-en-Y 胃旁路手术后,首次成功纠正肥胖、自律神经失调和代谢紊乱。对该患者的人体测量、代谢分析和粪便微生物组组成进行了纵向评估。在手术后的 48 个月内,患者的体重指数(BMI)降低了 9.5 kg/m2,新陈代谢状况得到改善,这体现在胰岛素的断奶、糖化血红蛋白、血脂和肝酶的改善。慢性腹泻在手术后和体重显著下降前得到缓解。对粪便细菌组成和生物量的评估表明,手术后纵向样本中的绝对丰度和分类组成发生了变化。该病例证明了减肥手术在纠正 ROHHAD 综合征代谢紊乱方面的潜在疗效,并对肠道微生物组的组成和生物量产生了长期影响。
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Gut Microbiome Alterations Accompany Metabolic Normalization Following Bariatric Surgery in ROHHAD Syndrome.

Rapid onset obesity with hypoventilation, hypothalamic, and autonomic dysregulation (ROHHAD) syndrome in childhood is characterized by abrupt onset weight gain and dysautonomia with variable neuroendocrine involvement. In the absence of definitive disease-modifying therapies, the primary management strategy remains symptom control. This case report describes the first successful correction of obesity, dysautonomia, and metabolic derangement in a patient with ROHHAD following Roux-en-Y gastric bypass. Anthropometrics, metabolic profiling, and stool microbiome composition were assessed in a longitudinal fashion. In the 48-month period following surgery, the patient body mass index (BMI) reduced by 9.5 kg/m2 and metabolic status improved, evidenced in weaning of insulin, and improved glycated hemoglobin, lipid profile, and hepatic enzymes. Chronic diarrhea resolved after surgery and prior to significant weight loss. Evaluation of stool bacterial composition and biomass demonstrated shifts in absolute abundance and taxonomic composition in longitudinal samples following surgery. This case demonstrates the potential efficacy of bariatric surgery in correcting the metabolic disruption of ROHHAD syndrome, producing long-term changes in gut microbiome composition and biomass.

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