X-连锁遗传性肾性尿崩症研究进展.pdfVIP

X-连锁遗传性肾性尿崩症研究进展 岑晶 顾锋 [摘要] X-连锁遗传性肾性尿崩症较为少见，临床表现各异，精氨酸加压素受体2(AVPPR2)基因 突变检测是其主要确诊手段。因常规对症治疗仅可部分缓解患者多饮、多尿的临床症状，个体差异显 著。基于基因功能及相关药物的研究进展，药物伴侣如AVPR2拮抗剂或激动剂成为目前的研究热 点，该类药物在一定程度上可恢复部分突变受体的结构和（或）生理活性，为该病的治疗提供潜在可 能性，但仍需更多的研究来进一步证实其临床疗效和安全性。 遗传性肾性尿崩症；基因突变；药物伴侣；治疗 Progress in researches of X-linked congenital nephrogenic diabetes insipidus CEN Jing GU Feng Key Laboratory of Endocrinology of The Ministry of Health ,Department of Endocrinology ,Peking Union Medi cal College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China [ Abstract] X-linked congenital nephrogenic diabetes insipidus (NDI) is a rare inherited disease characterized by various clinical manifestations and finally diagnosed on the basis of the detection of arginine vasopressin receptor type 2 gene (AVPR2) mutations. Though traditional treatment for NDI can partially re lieve nonspecific symptoms such as polyuria and polydipsia, it is only a symptomatic treatment with various individual response. In line with the development of gene and pharmacological studies, pharmacological chap erones such as AVP2R antagonist or agonist can dramatically rescue cell-surface expression and function of misfolded AVP2R mutants,thus demonstrate the potential as future therapies for NDI as a result of rescuing misfolded AVP2R mutants. However, its efficacy and safety still needs to be confirmed by further cellular functional and clinical researches. Congenital nephrogenic diabetes insipidus;Gene mutation;Pharmacological chaperone;Treat ment 10. 3760/cma. i. issn. 1673-4157. 2011.05. 020 国家自然科学基金资助项目 作者单位：100730北京，中国医学科学院，北京协和医学院，北 京协和医院内分泌科，卫生部内分泌重点实验室 4.2 @@[ 1 ] Fujiwara TM, Bichet DG. Molecular biology of hereditary diabetes insipidus. J Am Soc Nephrol,2005,16:2836-2846.