切换至 "中华医学电子期刊资源库"

中华肾病研究电子杂志 ›› 2022, Vol. 11 ›› Issue (06) : 357 -359. doi: 10.3877/cma.j.issn.2095-3216.2022.06.011

病例报告

以多囊肾首诊的Ⅰ型口-面-指综合征1例并文献复习
王冲1, 王炜1, 蔡士铭1, 武向兰1, 李月红1,()   
  1. 1. 102218 清华大学附属北京清华长庚医院肾内科、清华大学临床医学院
  • 收稿日期:2021-11-11 出版日期:2022-12-28
  • 通信作者: 李月红
  • 基金资助:
    首都卫生发展科研专项项目(首发2022-3-2243)

A case of type Ⅰ oral-facial-digital syndrome first diagnosed as polycystic kidney disease with literature review

Chong Wang1, Wei Wang1, Shiming Cai1   

  • Received:2021-11-11 Published:2022-12-28
引用本文:

王冲, 王炜, 蔡士铭, 武向兰, 李月红. 以多囊肾首诊的Ⅰ型口-面-指综合征1例并文献复习[J]. 中华肾病研究电子杂志, 2022, 11(06): 357-359.

Chong Wang, Wei Wang, Shiming Cai. A case of type Ⅰ oral-facial-digital syndrome first diagnosed as polycystic kidney disease with literature review[J]. Chinese Journal of Kidney Disease Investigation(Electronic Edition), 2022, 11(06): 357-359.

口面指综合征(oral-facial-digital syndromes,OFDS)是一种主要表现为口腔异常、面部和骨骼畸形的罕见遗传性疾病。OFDS可依据临床表现和遗传模式分为16型,其中OFDSⅠ型呈X连锁显性遗传,多伴肾脏、神经系统畸形,特征为口、面、指畸形伴多囊肾。该病在遗传性囊性肾病中少见,临床表现不典型,认知率低。现报道以多囊肾首诊我科的OFDS Ⅰ型1例。

图1 该患者体貌特征注:A:眶距增宽、腭裂(修复后);B:分叶舌;C:第5指侧弯
图2 该患者家系图谱注:OFDSⅠ,Ⅰ型口-面-指综合征;PKD,polycystic kidney disease,多囊肾;○正常女性,□正常男性,?已逝者,◥先证者,◇性别不明
图3 该患者腹部CT及头颅MRI检查注:A:腹部CT示双肾多发囊肿,附件囊性病变(红色箭头所示);B:头颅MRI示右侧侧脑室旁小囊肿(红色箭头所示);C:头颅MRI提示小脑上池蛛网膜囊肿(红色箭头所示)
[1]
汤晓雨,古东坤,李冬,等. 口-面-指综合征Ⅰ型5例临床分析[J]. 中国口腔颌面外科杂志2020, 18(6): 539-543.
[2]
Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS) [J]. Cilia, 2016, 5: 12.
[3]
Sakakibara N, Morisada N, Nozu K, et al. Clinical spectrum of male patients with OFD1 mutations [J]. J Hum Genet, 2019, 64(1): 3-9.
[4]
Del GE, Macca M, Imperati F, et al. CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study [J]. Orphanet J Rare Dis, 2014, 9: 74.
[5]
Chetty-John S, Piwnica-Worms K, Bryant J, et al. Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I) [J]. Am J Med Genet A, 2010, 152A(10): 2640-2645.
[6]
叶敏,江银华,闫俊杰,等. 口-面-指综合征Ⅰ型伴先天性心脑发育不全1例报道[J]. 口腔医学2014, 34(3): 215-217.
[7]
Bruel AL, Franco B, Duffourd Y, et al. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes [J]. J Med Genet, 2017, 54(6): 371-380.
[8]
Bisschoff IJ, Zeschnigk C, Horn D, et al. Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability [J]. Hum Mutat, 2013, 34(1): 237-247.
[9]
Zhang HW, Su BG, Yao Y. OFD1 mutation induced renal failure and polycystic kidney disease in a pair of childhood male twins in China [J]. World J Clin Cases, 2020, 8(2): 331-336.
No related articles found!
阅读次数
全文


摘要