PHIP基因突变所致Chung-Jansen综合征一例  

A case of Chung-Jansen syndrome caused by PHIP gene mutation

作　　者：王慧超 李田华[2] 杨柳 卢园园[2] Wang Huichao;Li Tianhua;Yang Liu;Lu Yuanyuan(Hospital of the PLA Joint Logistic Support Force,Weihai 264299,China)

机构地区：[1]中国人民解放军联勤保障部队第九七〇医院,威海264299 [2]潍坊市人民医院,潍坊261000

出　　处：《新医学》2023年第11期841-844,共4页Journal of New Medicine

基　　金：潍坊市卫生健康委员会科研项目(WFWSJK-2023-075)。

摘　　要：Chung-Jansen综合征(CHUJANS)是一种常染色体显性遗传病,是新近发现的罕见肥胖综合征,主要表现为发育迟缓、智力障碍、肥胖和畸形。该文报道1例以肥胖、睾丸小为主要表现的CHUJANS患儿,该患儿发育迟缓、智力障碍,伴有左肾缺如及低促性腺激素性性功能减退,基因检测结果提示PHIP基因突变,突变位点c.600+1G>C,最终诊断为CHUJANS。经过长期综合性治疗,患儿远期生活质量获得极大改善。CHUJANS发病率低,且累及多系统,该例扩展了CHUJANS的基因突变谱,有助于提高临床医师对该疾病的认识水平,及早识别并给予干预将有助于改善患者预后。Chung-Jansen syndrome(CHUJANS),an autosomal dominant genetic disorder,is a newly discovered rare obesity syndrome,mainly manifesting as developmental delay,mental retardation,obesity and dysmorphism.We reported one CHUJANS child with obesity and small testes as the main manifestations.The patient had developmental delay,mental retardation,complicated with left renal agenesis and hypogonadotropic hypogonadism.Genetic testing prompted PHIP gene mutation at c.600+1G>C.The child was diagnosed with CHUJANS.After long-term comprehensive treatment,the long-term quality of life was significantly improved.As Chung-Jansen syndrome is low in prevalence and multi-systemic,this case report expands the spectrum of mutations in CHUJANS,which can deepen clinicians’understanding of this disease.Early diagnosis and intervention contribute to enhancing clinical prognosis.

关 键 词：Chung-Jansen综合征 PHIP基因 杂合突变 儿童 

分 类 号：R725.9[医药卫生—儿科]