Students' Scientific Association at the Department of Pediatrics, Medical University of Silesia in Katowice, Zabrze, Poland.
Students' Scientific Association at the Department of Psychiatry and Psychotherapy of Developmental Age, Medical University of Silesia in Katowice, Katowice, Poland.
Front Endocrinol (Lausanne). 2024 Jul 18;15:1424819. doi: 10.3389/fendo.2024.1424819. eCollection 2024.
Bardet-Biedl Syndrome (BBS) is an autosomal recessive non-motile ciliopathy, caused by mutations in more than twenty genes. Their expression leads to the production of BBSome-building proteins or chaperon-like proteins supporting its structure. The prevalence of the disease is estimated at 1: 140,000 - 160,000 of life births. Its main clinical features are retinal dystrophy, polydactyly, obesity, cognitive impairment, hypogonadism, genitourinary malformations, and kidney disease. BBS is characterized by heterogeneous clinical manifestation and the variable onset of signs and symptoms. We present a case series of eight pediatric patients with BBS (6 boys and 2 girls) observed in one clinical center including two pairs of siblings. The patients' age varies between 2 to 13 years (average age of diagnosis: 22 months). At presentation kidney disorders were observed in seven patients, polydactyly in six patients' obesity, and psychomotor development delay in two patients. In two patients with kidney disorders, the genetic tests were ordered at the age of 1 and 6 months due to the presence of symptoms suggesting BBS and having an older sibling with the diagnosis of the syndrome. The mutations in the following genes were confirmed: , , , . All described patients developed symptoms related to the urinary system and kidney-function impairment. Other most common symptoms are polydactyly and obesity. In one patient the obesity class 3 was diagnosed with multiple metabolic disorders. In six patients the developmental delay was diagnosed. The retinopathy was observed only in one, the oldest patient. Despite having the same mutations (siblings) or having mutations in the same gene, the phenotypes of the patients are different. We aimed to addresses gaps in understanding BBS by comparing our data and existing literature through a narrative review. This research includes longitudinal data and explores genotype-phenotype correlations of children with BBS. BBS exhibits diverse clinical features and genetic mutations, making diagnosis challenging despite defined criteria. Same mutations can result in different phenotypes. Children with constellations of polydactyly and/or kidney disorders and/or early-onset obesity should be managed towards BBS. Early diagnosis is crucial for effective monitoring and intervention to manage the multisystemic dysfunctions associated with BBS.
Bardet-Biedl 综合征（BBS）是一种常染色体隐性非运动性纤毛病，由二十多个基因的突变引起。它们的表达导致 BBSome 构建蛋白或伴侣样蛋白的产生，支持其结构。该疾病的患病率估计为每 14 万至 16 万例活产。其主要临床特征是视网膜营养不良、多指畸形、肥胖、认知障碍、性腺功能减退、泌尿生殖系统畸形和肾脏疾病。BBS 的特点是临床表现异质性和体征及症状的可变发病。我们报告了一个在一个临床中心观察到的 8 例儿科 BBS 患者（6 名男孩和 2 名女孩）的病例系列，其中包括两对兄弟姐妹。患者年龄在 2 至 13 岁之间（平均诊断年龄：22 个月）。在就诊时，7 例患者存在肾脏疾病，6 例患者存在多指畸形，2 例患者存在精神运动发育迟缓。在 2 例有肾脏疾病的患者中，由于存在提示 BBS 的症状且有一个患有该综合征的年长兄弟姐妹，因此在 1 个月和 6 个月龄时进行了基因检测。以下基因的突变得到了证实：、、、。所有描述的患者都出现了与泌尿系统和肾功能损害相关的症状。其他最常见的症状是多指畸形和肥胖。在一名患者中，由于存在多种代谢紊乱，被诊断为肥胖 3 级。在 6 例患者中，被诊断为发育迟缓。在唯一的一名老年患者中观察到了视网膜病变。尽管有相同的突变（兄弟姐妹）或在同一基因中有突变，但患者的表型不同。我们旨在通过叙述性综述比较我们的数据和现有文献来解决对 BBS 的理解差距。这项研究包括纵向数据，并探讨了 BBS 患儿的基因型-表型相关性。BBS 表现出多样化的临床特征和遗传突变，尽管有明确的标准，但诊断仍然具有挑战性。相同的突变可能导致不同的表型。有多指畸形和/或肾脏疾病和/或早发性肥胖的儿童应接受 BBS 管理。早期诊断对于有效监测和干预以管理与 BBS 相关的多系统功能障碍至关重要。
