| 常染色体显性遗传多囊肾一家系15例 |
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| 引用本文： | 段晓星,夏丽华,张国光,梦雅平. 常染色体显性遗传多囊肾一家系15例[J]. 内蒙古医学院学报, 2008, 30(3) |
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| 作者姓名： | 段晓星 夏丽华 张国光 梦雅平 |
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| 作者单位： | 内蒙古医学院附属医院,肾内科,内蒙古,呼和浩特,010050 |
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| 摘 要： | 目的:了解常染色体显性遗传多囊肾的家族聚集性,探讨其患病情况、患病规律及治疗用药.方法:运用谱系图,报道常染色体显性遗传多囊肾(ADPK)一家系,共追溯五代.结果:家族中患病者男6人,女9人,符合常染色体显性遗传规律.家族中ADPK病人对高血压等并发症未能正确用药及系统治疗.结论:家系调查对开展遗传咨询、优生指导有重要意义.ADPK的早期诊断和早期系统治疗,可改善预后、提高病人生存质量,应提高患病人群对相关知识的掌握.
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| 关 键 词： | 多囊肾 遗传性疾病 谱系图 |
FIFTEEN CASES OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY IN A FIMILY TREE |
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| DUAN Xiao-xing,XIA Li-hua,ZHANG Guo-guang,et al.. FIFTEEN CASES OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY IN A FIMILY TREE[J]. Acta Academiae Medicinae Neimongol, 2008, 30(3) |
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| Authors: | DUAN Xiao-xing XIA Li-hua ZHANG Guo-guang et al. |
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| Affiliation: | Department of Nephrology;Affiliated Hospital;Inner Mongolia Medical College;Hohhot 010050 China |
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| Abstract: | Objective:To explore the familial aggregation of autosomal dominant polycystic kidney(ADPK) and to investigate the situation,regularity and medication with this disease.Methods:A family system with ADPK,which was traced back to five generations,was reported according to the pedigree diagram.Results:Six men and nine women with ADPK were in accord with the law of inheritance of autosomal dominance.In the family,the patients with ADPK could not take the medicine correctly and treat systematically to the compli... |
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| Keywords: | polycystic kidney hereditary disease pedigree diagram |
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