Kagami-Ogata综合征1例并文献复习  

Kagami-Ogata syndrome:a case report and literature review

作　　者：姜静婧 孙之星 李正红[1] 万伟琳 全美盈 Jiang Jingjing;Sun Zhixing;Li Zhenghong;Wan Weilin;Quan Meiying(Department of Pediatrics,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院、北京协和医学院、北京协和医院儿科,北京100730

出　　处：《中华新生儿科杂志（中英文）》2024年第1期23-29,共7页Chinese Journal of Neonatology

基　　金：中央高水平医院临床科研专项(2022-PUMCH-A-226)。

摘　　要：目的探讨Kagami-Ogata综合征的临床表现、遗传学特征及治疗方案。方法分析北京协和医院收治的1例经羊水穿刺基因诊断Kagami-Ogata综合征患儿的临床特征、基因变异类型和治疗情况,并以"Kagami-Ogata综合征"、"14q32微缺失综合征"、"衣架征"、"14号染色体父源二倍体"、"Kagami-Ogata syndrome"、"14q32 gene"、"Coat Hanger"和"UPD(14)pat"为关键词,分别对中华医学期刊全文数据库、中国知网、万方数据库、PubMed、Web of Science、Embase、Cochrane Library自建库至2023年1月23日收录的文献进行检索,总结国内外报道的Kagami-Ogata综合征患儿的临床特征、治疗情况和基因类型。结果本例患儿男,胎龄30周,出生体重2035 g,孕期超声提示胎儿偏大,双肾盂分离,下腹部多处肠管增宽,双手握拳及重叠指,羊水多。生后即出现呼吸困难并逐渐加重,有特殊面容(下颌小、颈短、鼻梁塌、鼻孔向上、双耳外耳廓短小、耳轮塌陷、双侧外耳道狭窄)、钟形胸廓、腹直肌分离、姿势异常(手指重叠、握拳),同时患儿喂养困难、反复发热,且持续依赖呼吸机支持。全外显子组测序提示患儿及其母亲14q32.2区段存在268.2Kb缺失(101034306101302541),父亲正常。因患儿预后不佳,家长放弃治疗,临终关怀2 d后患儿1月龄时死亡。文献检索共收录36篇文献,包括78例临床信息完整的Kagami-Ogata综合征患儿,加上本例共79例,临床表现主要包括特殊面容及胸廓发育异常(79/79,100%)、羊水过多(71/75,94.7%)、喂养困难(55/63,87.3%)、腹壁缺陷(57/72,79.2%)、关节挛缩(39/70,55.7%)、呼吸支持依赖(29/56,51.8%),长期随访患儿中86.8%(59/68)存在体格、运动及智力发育迟滞,39.7%(25/63)在5岁内死亡或放弃。基因检测父源二倍体变异44例(55.7%),母源缺失23例(29.1%),表突变8例(10.1%),未报道变异4例(5.1%)。结论Kagami-Ogata综合征是一组累及多器官系统的遗传印记基因疾病,产前检查可Original Article Kagami-Ogata syndrome:a case report and literature review Jiang Jingjing,Sun Zhixing,Li Zhenghong,Wan Weilin,Quan Meiying Published 2024-01-15 Cite as Chin J Neonatol,2024,39(1):23-29.DOI:10.3760/cma.j.issn.2096-2932.2024.01.006 Abstract Objective To study the clinical manifestations,genetic profiles and treatment of Kagami-Ogata syndrome(KOS).Methods A neonate admitted to our hospital was genetically diagnosed of KOS from amniocentesis sampling.The phenotype,genotype and treatment of the neonate were analyzed.Multiple databases were searched using key words including"Kagami-Ogata syndrome","14q32 microdeletion syndrome","coat-hanger ribs","paternal uniparental disomy(pUPD)(14)"from the inception of the databases to Jan.23th 2023.The clinical features,genotype and treatment of patients from the literature were summarized.Results The neonate in our hospital was born at 30 weeks gestational age with a birth weight of 2035 g.Prenatal ultrasound indicated overgrowth,bilateral fetal renal pelvis dilatation(FRPD),dilatation of intestines in lower abdomen,clenched hands with overlapping fingers and polyhydramnios.After birth,the neonate showed progressively worsening respiratory distress,distinct facial features(small jaw,short neck,flat nasal bridge,upward-facing nostrils,small and malformed ears with auricular deformity and narrow external auditory canals),bell-shaped thorax,diastasis recti and abnormal posture(overlapping fingers,clenched fists),as well as feeding difficulties,recurrent fever and dependence of respiratory support.Whole exome sequencing(WES)revealed a 268.2Kb deletion(101034306_101302541)in 14q32.2 region on both the neonate and the mother and the father was otherwise normal.The prognosis was poor and the parents refused further treatment.The neonate died at one month of age after two days of palliative care.A total of 36 articles were identified in the literature review,including 78 KOS cases with complete clinical data(a total of 79 cases adding our case).The primary clinical manife

关 键 词：Kagami-Ogata综合征 14q32基因 印记基因 衣架征 呼吸困难 

分 类 号：R725.9[医药卫生—儿科]