期刊文献+

Senior-Loken综合征一例及文献复习 被引量:2

Senior-Loken syndrome: a case report and literature review
原文传递
导出
摘要 本文报道1例Senior-Loken综合征患者。患者男性,22岁,因蛋白尿和肾功能不全入院,既往有夜盲症病史。入院眼科检查诊断为视网膜色素变性。肾活检提示肾髓质囊性病。二代测序全外显子组检测提示患者NPHP1基因大段纯和缺失,其父亲和母亲为杂合子。保肾对症治疗后肾功能稳定至今。
作者 李思倩 孙婧 郭志勇 边琪 Li Siqian;Sun Jing;Guo Zhiyong;Bian Qi(Department of Nephrology,Changhai Hospital Affiliated to Naval Medical University(Second Military Medical University),Shanghai 200433,China)
出处 《中华肾脏病杂志》 CAS CSCD 北大核心 2021年第5期438-441,共4页 Chinese Journal of Nephrology
基金 国家自然科学基金(81600550)。
  • 相关文献

参考文献2

二级参考文献16

  • 1戎殳,梅长林,李青,吴玉梅,费丽萍,吴静娣,叶朝阳,赵学智,张玉强,张黎明.271例常染色体显性遗传性多囊肾病患者临床分析[J].中华肾脏病杂志,2005,21(3):133-138. 被引量:28
  • 2戴兵,刘亚伟,梅长林.纤毛与肾囊肿性疾病[J].中华肾脏病杂志,2006,22(2):129-132. 被引量:3
  • 3Konrad M, Saunier S, Calado J, et al. Familial juvenile nephronophthisis. J Mol Med, 1998,76:310-316.
  • 4Broyer M. Incidence and etiology of ESRD in children. In: Fine RN, Gruskin AB, eds. End-stage renal disease in children. Philadelphia: Saunders, 1994:9-15.
  • 5Hildebrant F, Otta E. Molecular genetics of nephronophthisis and meddullary cystic kidney disease. J Am Soc Nephrol, 2000,11 : 1753-1761.
  • 6Scolari F, Ghiggeri GM. Nephronophthisis-Medullary cystic kidney disease: from bedside to bench and back again. Saudi J Kidney Dis Transplant, 2003,14:316-327.
  • 7Stavrou C, Koptides M, Tombazos C, et al. Autosomaldominant medullary cystic kidney disease type Ⅰ: Clinical and molecular findings in six large Cypriot families. Kidney Int, 2002,62:1385-1394.
  • 8Kleinknecht C, Habib R. Nephronophthisis. In:Cameron JC, Davison AM, Grunfeld J-P. Kres KNS, Ritz E, eds. Textbook of Clinical Nephrology. Oxford: Oxford University Press, 1992:2188-2197.
  • 9Gusmano R, Ghiggeri GM. Nephronophthisis-medullary cystic disease: clinical and genetic aspects. J Nephrol, 1998,11: 224-228.
  • 10Liapis H, Winyard P. Cystic diseases and developmental kidney defects. In: Jennette JC, Olson JL, Schwartz MM, Silva FG, eds. Heptinstall's pathology of the kidney. Sixth ed. Philadelphia: Lippincott Williams & Wilkins, 2007: 1273-1278.

共引文献5

同被引文献15

引证文献2

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部