天津医药

天津医药 ›› 2018, Vol. 46 ›› Issue (4): 422-426.doi: 10.11958/20180011

• 临床研究 • 上一篇    下一篇

经基因分析确诊的原发性范可尼综合征一例报告

顾洁 1#，朱若昕 2#，李栋 3△   

  1. 基金项目：天津市科委面上资助项目（15JCYBJC26200） 作者单位：1中国医学科学院血液病医院（血液学研究所）实验动物中心（邮编300020）；2甘肃省妇幼保健院妇产科；3天津医科大学总医 院肾内科 #为共同第一作者 作者简介：顾洁（1970），女，本科，主管技师，主要从事遗传学、分子生物学、细胞学及实验动物等领域研究 △通讯作者 E-mail: lidong430@126.com
  • 收稿日期:2018-01-02 修回日期:2018-01-25 出版日期:2018-04-15 发布日期:2018-04-15
  • 通讯作者: 李栋 E-mail:lidong430@126.com
  • 基金资助:
    天津市科委面上项目资助

A case report of inherited Fanconi syndrome diagnosed by gene analysis

GU Jie1#, ZHU Ruo-xin2#, LI Dong3△   

  1. 1 Laboratory Animal Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, China; 2 Department of Obstetrics and Gynaecology, Gansu Provincial Maternity and Child Care Hospital; 3 Department of Nephrology, Tianjin Medical University General Hospital △Corresponding Author E-mail: lidong430@126.com
  • Received:2018-01-02 Revised:2018-01-25 Published:2018-04-15 Online:2018-04-15

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摘要： 摘要：原发性范可尼综合征是一类罕见的遗传病，由于HNF4A等基因缺陷导致近端肾小管功能障碍，重吸收受 阻引发营养物质丢失及电解质紊乱，从而以多饮、多尿、生长发育落后、佝偻病为主要表现。对于原发性范可尼综合 征的临床与遗传学研究，国内仅有数例病例报道，尚少见遗传学确诊病例报道。本文患者经临床、生化、影像学及 HNF4A基因分析，发现HNF4A基因存在c.187C>T（p.R63W）的杂合突变，未在患者父母中检出，经临床及遗传学确诊 为原发性范可尼综合征。给予患者左卡尼汀、辅酶Q10、纠酸、保肝、护肾、补充维生素D、改善线粒体功能等治疗并 进行随访，患者临床症状有所好转。

关键词: 范科尼综合征, 佝偻病, 醛固酮减少症, 基因, HNF4A基因

Abstract: Corresponding Author E-mail: lidong430@126.com Abstract: Inherited Fanconi syndrome is a kind of rare hereditary disorder, usually affecting kidney proximal tubule, kidney, liver and bones. HNF4A gene mutation is one of genetic causes with unclear pathogenicity mechanisms, leading to loss of nutrients and electrolyte disturbances due to kidney proximal tubule reabsorption defect. There are only a few cases reported in China on the clinical and genetic studies of inherited Fanconi syndrome. There is rarely a genetically diagnosed case report. In this study, the proband was a 16-year-old boy. HNF4A gene sequencing was performed, and a heterozygous mutation c.187C>T (p.R63W) was detected in the HNF4A gene, which was not detected in proband’s parents. The patient was diagnosed as inherited Fanconi syndrome by clinical and genetics. The patient was treated with L-carnitine, coenzyme Q10, acidosis correction, liver and kidney protectant and vitamin D supplement, and therapy of improved mitochondrial func⁃ tion. The patient was followed up, and the clinical symptoms were improved.

Key words: Fanconi syndrome, rickets, hypoaldosteronism, genes, HNF4A gene