KBG综合一例并文献复习

KBG Syndrome: A Case Report and Literature Review

摘要: 目的：报告1例KBG综合征患儿的临床表型和ANKRD11基因新的位点，提高医生对本病的认识及增加应用生长激素治疗经验。方法：收集1例KBG综合征患儿的临床资料，完善全外显子基因测序，应用生长激素治疗1年，评估疗效。检索已报道的KBG综合征的病例，总结临床特征、诊断、分子机制及治疗方法。结果：该患儿具有KBG综合征典型临床表现，ANKRD11 c.6048delC (编码区第6048号核苷酸C缺失)的杂合突变，应用生长激素治疗10个月，身高增长9.8 cm，未见不良反应。KBG综合征是一种罕见的常染色体显性遗传病，它具有典型的临床表现，主要表现在典型的颅面特征、中上恒牙巨齿、骨骼畸形、神经系统发育迟缓、听力障碍、隐睾等多个方面。分子机制为ANKRD11基因的突变或16q24.3的缺失，根据2016年的诊断标准，患者合并两个主要诊断标准或合并一个主要诊断标准及两个次要诊断标准者即可诊断KBGS。目前治疗尚无特效方法，生长激素治疗对于改善矮小的患者有效。结论：扩充了KBG综合征患者ANKRD11基因突变谱，有利于该病诊断，为该疾病患儿应用生长激素提供经验。

Abstract: Objective: To report the clinical phenotype and the new locus of ANKRD11 gene in a child with KBG syndrome, so as to improve the doctors’ understanding of the disease and increase the experience in the treatment of growth hormone. Methods: The clinical data of one case of KBG syndrome were collected, the whole exon gene sequencing was improved, and the growth hormone was used for 1 year to evaluate the curative effect. Result: The child had typical clinical manifestations of KBG syndrome, a heterozygous mutation of ANKRD11c.6048delc (nucleotide C deletion of coding region No. 6048). After 10 months of treatment with growth hormone, the height of the child increased by 9.8 cm, and no adverse reactions were observed. KBG syndrome is a rare autosomal dominant hereditary disease. It has typical clinical manifestations, such as typical craniofacial features, megateeth of middle and upper permanent teeth, skeletal deformity, nervous system growth retardation, hearing impairment, cryptorchidism and so on. The molecular mechanism is ANKRD11 gene mutation or 16q24.3 deletion. According to the 2016 diagnostic criteria, KBGS can be diagnosed by patients with two main diagnostic criteria or one primary diagnostic criteria and two secondary diagnostic criteria. At present, there is no specific treatment, and growth hormone therapy is effective for the improvement of short stature patients. Conclusion: The mutation spectrum of ANKRD11 gene in patients with KBG syndrome is expanded, which is conducive to the diagnosis of KBG syndrome and provides experience for the application of growth hormone in children with KBG syndrome.