Bo Hui, Jiang Lihong, Zheng Jiaqi, Sun Jie
Jinghai Clinical College of Tianjin Medical University, Tianjin, China.
Department of Pediatrics, Jinghai District Hospital, Tianjin, China.
Front Pediatr. 2021 Nov 5;9:747353. doi: 10.3389/fped.2021.747353. eCollection 2021.
We aimed to summarize the clinical characteristics of Floating-Harbor syndrome (FHS) and the effect of recombinant human growth hormone (rhGH) to increase height. The clinical manifestations, gene sequencing results, treatment, and regression of one child with FHS were reported at the Department of Pediatrics, General Hospital of Tianjin Medical University, in July 2020. PubMed was searched using the keyword "Floating-Harbor Syndrome" up to March 2021 to obtain clinical information on children with FHS for review. The child, who was a male aged 6 years and 9 months, presented to the clinic with main complaints of delayed language development since childhood and a short stature for 4 years. The child's short stature, peculiar facial features, delayed language development, and delayed bone development were considered alongside genetic testing and Sanger sequencing to verify the results. A heterozygous mutation (c.7401delC; p.Ile2468Phefs7) was identified in exon 34 of the gene, which was a frameshift mutation, and Sanger verification showed that neither parent had this mutation. The child was administered subcutaneous injection of rhGH (0.13 U/kg/day) and was followed up regularly. At the time of writing, the child had been treated for 6 months and was 7 years and 3 months old with a height of 106.3 cm (-3.69 SDS), which was a height increase of 6.3 cm. The patient did not complain of discomfort during treatment and presented normal laboratory tests results. Twenty-two children with FHS treated with rhGH were included in the literature review, and most of these patients demonstrated an increase in height SDS without adverse effects. Short stature, delayed skeletal maturation, impaired language expression, intellectual deficits, and peculiar facial features are the main clinical features of FHS. rhGH can be used as a treatment to increase height in patients with FHS, but its effectiveness and safety still need to be monitored in larger sample sizes over longer periods of time.
我们旨在总结浮动港综合征（FHS）的临床特征以及重组人生长激素（rhGH）对增高的效果。2020年7月，天津医科大学总医院儿科报告了1例FHS患儿的临床表现、基因测序结果、治疗及随访情况。截至2021年3月，使用关键词“浮动港综合征”检索PubMed，以获取FHS患儿的临床信息进行综述。该患儿为6岁9个月男性，因自幼语言发育迟缓及身材矮小4年就诊。结合患儿身材矮小、特殊面容、语言发育迟缓及骨骼发育延迟情况，进行基因检测及桑格测序以验证结果。在该基因第34外显子中鉴定出一个杂合突变（c.7401delC；p.Ile2468Phefs7），为移码突变，桑格验证显示其父母均无此突变。给予患儿皮下注射rhGH（0.13 U/kg/天）并定期随访。撰写本文时，患儿已治疗6个月，7岁3个月，身高106.3 cm（-3.69 SDS），身高增长了6.3 cm。患儿在治疗期间未诉不适，实验室检查结果正常。文献综述纳入了22例接受rhGH治疗的FHS患儿，这些患儿大多身高SDS增加且无不良反应。身材矮小、骨骼成熟延迟、语言表达受损、智力缺陷及特殊面容是FHS的主要临床特征。rhGH可用于治疗FHS患儿增高，但仍需在更大样本量、更长时间内监测其有效性和安全性。
