Pomeroy Jeremy, Okorie Uzoma, Richardson Jesse G, Faucher Ariane, Ionescu-Ittu Raluca, Vekeman Francis, Huber Caroline, Haws Robert M
Fritz Wenzel Center for Clinical Research, Marshfield Clinic Research Institute, Marshfield, Wisconsin, USA.
Department of Pediatrics, Marshfield Clinic Research Institute, Marshfield, Wisconsin, USA.
Pediatr Obes. 2025 Sep;20(9):e70026. doi: 10.1111/ijpo.70026. Epub 2025 Jun 2.
To date, research on the natural history of hyperphagia, weight gain and health outcomes in individuals with Bardet-Biedl syndrome (BBS) has been limited. Understanding these characteristics is important for disease burden management.
The international Clinical Registry Investigating BBS (CRIBBS) is a registry of individuals with BBS to investigate the severity of hyperphagia, the natural history of weight gain and the frequency of obesity-associated health outcomes in paediatric individuals with BBS.
Paediatric participants (<18 years of age) enrolled in CRIBBS were evaluated to assess weight and weight loss interventions, hyperphagia and the frequency of cardiac, endocrine/diabetic and renal health outcomes.
Of 331 children, 81.0% had obesity at baseline and 22.7% reported use of weight loss diet or medication at baseline or later. Among participants with ≥2 weight measurements ≥2 years apart (n = 186), 17.2% had a higher weight classification from the first to the last assessment. Increasing hyperphagia severity was associated with increasing obesity. The prevalence of cardiac, diabetic, endocrine and renal health outcomes increased with obesity class.
Hyperphagia and obesity are highly prevalent in children with BBS. Many children with BBS also experience adverse health outcomes. Timely diagnosis and targeted treatment of hyperphagia and obesity are needed.
迄今为止，关于巴德-比德尔综合征（BBS）患者食欲亢进、体重增加及健康结局的自然史研究有限。了解这些特征对于疾病负担管理至关重要。
国际BBS临床注册研究（CRIBBS）是一个BBS患者注册库，旨在调查BBS患儿食欲亢进的严重程度、体重增加的自然史以及肥胖相关健康结局的发生频率。
对CRIBBS纳入的儿科参与者（<18岁）进行评估，以评估体重及体重减轻干预措施、食欲亢进情况以及心脏、内分泌/糖尿病和肾脏健康结局的发生频率。
在331名儿童中，81.0%在基线时患有肥胖症，22.7%报告在基线或之后使用了减肥饮食或药物。在间隔≥2年进行了≥2次体重测量的参与者中（n = 186），17.2%从第一次评估到最后一次评估时体重分类更高。食欲亢进严重程度增加与肥胖增加相关。心脏、糖尿病、内分泌和肾脏健康结局的患病率随肥胖等级增加而升高。
食欲亢进和肥胖在BBS患儿中非常普遍。许多BBS患儿还经历不良健康结局。需要对食欲亢进和肥胖进行及时诊断和针对性治疗。
