Zhang Chen,Huang Qi,Du Yi,et al.Cytochrome P450 oxidoreductase deficiency in an infant: A case report and literature review[J].Journal of Clinical Pediatric Surgery,2025,(12):1180-1186.[doi:10.3760/cma.j.cn101785-202503109-016]
婴儿细胞色素P450氧化还原酶缺陷症1例并文献复习
- Title:
- Cytochrome P450 oxidoreductase deficiency in an infant: A case report and literature review
- 关键词:
- 细胞色素P450氧化还原酶缺陷症; 诊断; 治疗; 婴儿
- Keywords:
- Cytochrome P450 Oxidoreductase Deficiency; Diagnosis; Therapy; Infant
- 摘要:
- 目的 探讨细胞色素P450氧化还原酶缺陷症(cytochrome P450 oxidoreductase deficiency,PORD)的临床特征及诊疗策略。方法 回顾性分析深圳市儿童医院骨科收治的1例PORD患儿临床资料,以"细胞色素 P450 氧化还原酶缺陷症"、"细胞色素 P450 氧化还原酶"、"POR基因"为检索词,检索中国知网、万方医学网相关文献;以"cytochrome P450 oxidoreductase deficiency"、"PORD"、"cytochrome P450 oxidoreductase"、"POR gene"为检索词,检索PubMed、Web of Science数据库相关文献;检索时限为2004年1月至2025年1月;按照纳入与排除标准筛选后进行文献复习,对患儿性别、年龄、所在地区、临床特征、影像学特征及细胞色素P450氧化还原酶(Cytochrome P450 oxidoreductase,POR)基因突变类型进行总结分析。结果 患儿女,7个月27天,于2023年12月7日因"头颅畸形"就诊。典型临床表现包括前额突出、颅缝早闭、鼻梁低平、肘关节周围骨骼融合、阴蒂增大、阴唇部分融合及类固醇激素水平紊乱等。基因检测提示p.G146fs*111和p.R457H复合杂合突变,其中p.G146fs*111为首次发现的突变类型。患儿先后接受双侧下颌骨牵引成骨术及颅缝再造术。共纳入50篇符合要求文献,报道169例PORD患儿。其中男68例,女101例;主要临床症状包括:骨骼畸形120例(120/169,71.01%)、 生殖器畸形119例(119/169,70.41%)、性激素异常或青春期延迟134例(134/169,79.29%)、肾上腺功能不全110例(110/169,65.09%);女性患儿中,有39例(39/101,38.61%)存在卵巢囊肿。169例PORD患儿中,携带p.R457H 92和p.A287P50突变类型者分别有92例(92/169,54.44%)、50例(50/169,29.59%)。我国的31例患儿中,携带p.R457H基因者22例(22/31,70.97%)。结论 PORD是一种罕见的常染色体隐性遗传病,其主要临床症状包括骨骼和生殖器官畸形、肾上腺皮质功能不全等,治疗需多学科协作。p.R457H可能是我国乃至黄种人的热点突变类型。此外p.G146fs*111为一新发突变,丰富了POR基因突变谱。
- Abstract:
- Objective To explore the clinical characteristics and management strategies of cytochrome P450 oxidoreductase deficiency (PORD). Methods The clinical data of one child with PORD admitted to the Department of Orthopedics,Shenzhen Children’s Hospital,were retrospectively analyzed.Using the Chinese keywords "cytochrome P450 oxidoreductase deficiency," "cytochrome P450 oxidoreductase," and "POR gene," relevant literature was retrieved from China National Knowledge Infrastructure (CNKI) and Wanfang databases.Using the English keywords "cytochrome P450 oxidoreductase deficiency," "PORD," "cytochrome P450 oxidoreductase," and "POR gene," relevant literature was searched in PubMed and Web of Science.The search period was from January 2004 to January 2025.After applying inclusion and exclusion criteria,a literature review was conducted,summarizing patient sex,age,geographic distribution,clinical manifestations,imaging findings,and cytochrome P450 oxidoreductase (POR) gene mutation types. Results The patient was a 7-month-27-day-old girl who presented on December 7,2023,with "cranial deformity." Typical clinical features included frontal bossing,craniosynostosis,depressed nasal bridge,peri-articular elbow skeletal fusion,clitoromegaly,partial labial fusion,and disordered steroid hormone levels.Genetic testing identified compound heterozygous mutations p.G146fs*111 and p.R457H,among which p.G146fs*111 represents a newly discovered mutation.The patient underwent bilateral mandibular distraction osteogenesis followed by cranial suture reconstruction.A total of 50 eligible articles were retrieved,reporting 169 children with PORD: 68 males and 101 females.Major clinical manifestations included skeletal malformations in 120 cases (120/169,71.01%),genital abnormalities in 119 cases (119/169,70.41%),sex hormone abnormalities or delayed puberty in 134 cases (134/169,79.29%),and adrenal insufficiency in 110 cases (110/169,65.09%).Among female patients,ovarian cysts were observed in 39 cases (39/101,38.61%).Across all reported patients,92 carried the p.R457H mutation (92/169,54.44%) and 50 carried p.A287P (50/169,29.59%).Among the 31 reported patients in China,22 (22/31,70.97%) carried the p.R457H mutation. Conclusions PORD is a rare autosomal recessive disorder characterized primarily by skeletal and genital malformations and adrenal insufficiency,requiring multidisciplinary management.The p.R457H mutation may represent a hotspot mutation in Chinese and possibly East Asian populations.Additionally,p.G146fs*111 is a newly identified mutation,expanding the mutation spectrum of the POR gene.
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备注/Memo
收稿日期:2025-3-28。
基金项目:深圳市儿童健康与疾病临床医学研究中心(szcrc2024_006);深圳市临床医学研究中心(20220819113341005)
通讯作者:赵占波,Email:szetyygk@163.com