KCNK9基因变异导致Birk-Barel综合征一例并文献复习

Birk Barel Syndrome Caused by KCNK9 Gene Mutation:A Case Report and Literature Review

【目的】总结本院收治的1例KCNK9基因变异导致Birk-Barel综合征患儿的临床表现,探讨相关疾病基因变异特点、治疗。【方法】回顾性分析湖南省儿童医院新生儿科2019年3月诊治的1例Birk-Barel综合征患儿的临床资料,以"KCNK9基因"、"KCNK9 gene"、"KCNK9 imprinting syndrome""Birk-Barel综合征"、"Birk-Earel syndrome"为检索词查阅国内外数据库,如万方数据库、中国知网和Pubmed等(建库至2020年5月份),总结KCNK9基因变异特点及Birk-Barel综合征患儿的临床表现,相关治疗。【结果】本例患儿为男婴,主要表现为:吸吮差,颅面狭长,上颌前凸,下颌后缩,双手通贯掌,双手食指、中指、无名指挛缩,不能被动拉直,四肢肌张力低下,原始发射引出不完全。高精度临床外显子测序示,KCNK9基因杂合突变(NM-016601),变异位点为,c.706G>A(P.G236R),文献检索目前国内暂无KCNK9基因变异所致Birk-Barel综合征的病例报道。国外共检索到3篇文献20例患儿,加上本文1例共21例。20例变异位点主要为c.77OG>A、c.706G>C、c.706G>A、c.710C>A,本例变异位点引起的氨基酸改变为p.A236N(1/21)。【结论】Birk-Barel综合征主要的临床表现为,先天性中枢性低肌张力(表现为运动减少、嗜睡、哭声弱)、面部无力和吮吸不良造成的严重的进食困难、发育迟缓或智力障碍以及畸形表现。治疗需多学科干预,并定期随访、评估。

【Objective】To summarize the clinical manifestations of a case of Birk Barrel syndrome caused by KCNK9 gene mutation in our hospital,and to explore the characteristics and treatment of gene mutation of related diseases.【Methods】The clinical datas of a case of Birk-Barel syndrome diagnosed and treated by the Department Ⅲ of Neonatology in Hunan Children's Hospital in March 2019 were analyzed retrospectively.Using"KCNK9 gene","KCNK9 imprinting syndrome"and"Birk-Barel syndrome"as key words to search databases at home and abroad,such as Wanfang database,CNKI and PubMed(from the establishment of database to May 2020),this paper summarizes the variation characteristics of KCNK9 gene and the clinical manifestations,treatment and prognosis of children with Birk-Barel syndrome.【Results】This case is a boy.The main manifestations are:poor sucking,narrow and long craniofacial region,maxillary protrusion,mandibular retrusion,palmar penetration of both hands,contracture of index finger,middle finger and ring finger of both hands,inability to passively straighten,low muscle tension of limbs,incomplete original emission.High precision clinical exon sequencing showed that KCNK9 gene heterozygous mutation(NM-016601),the mutation site was C.706G>A(p.g236R),At present,there was no case report of Birk-Barel syndrome caused by KCNK9 gene mutation in China.A total of 20 cases of children with 3 articles abroad were retrieved,and 21 cases were added with this case.In 20 cases,the change of heterotopia was mainly c.770g>A,c.706g>C,c.706g A,c.710c>A.In this case,the change of amino acid was p.a236n(1/21).【Conclusion】The main clinical manifestations of Birk-Barel syndrome are:congenital central hypotonia(manifested as hypokinesia,drowsiness,weak crying),severe eating difficulties caused by facial weakness and poor sucking,developmental retardation or mental retardation,and deformity.Treatment needs multidisciplinary intervention and regular follow-up and evaluation.