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常染色体显性遗传性多囊肾病的肾脏表现

Authors
Arlene B Chapman, MD
Frederic F Rahbari-Oskoui, MD, MSCR
William M Bennett, MD
Section Editor
Ronald D Perrone, MD
Deputy Editor
Alice M Sheridan, MD
Translators
张玉强, 副主任医师，副教授

引言

常染色体显性遗传性多囊肾病(autosomal dominant polycystic kidney disease, ADPKD)常导致进行性肾衰竭，部分是由囊肿持续增大所致。肾脏大小常在肾功能丢失前数年增至正常大小的5倍以上，而测量的肾脏总体积是发生肾功能不全的最强的预测指标[1]。其他可出现的肾脏表现包括：高血压、尿路感染、浓缩障碍、血尿、肾结石，以及急性或慢性腰痛和腹痛；蛋白排泄通常不是突出特点[2,3]。所有并发症均与肾囊肿累及程度直接相关，累及程度可通过肾脏总体积测量值来评估。 (参见“常染色体显性遗传性多囊肾的病程和治疗”和“常染色体显性遗传性多囊肾引起的高血压”和“常染色体显性遗传性多囊肾中的泌尿道感染”)

血尿

约35%-50%的ADPKD患者在病程的某个时间会出现血尿，且一般肉眼可见，这通常出现在肾功能丢失之前，可能是本病的主诉症状[2,4]。常可发现诱发事件，如尿路感染或剧烈活动，反复发作也并不少见[4]。在ADPKD中，有肉眼血尿则肾脏疾病进展更快[4]。

囊肿破裂进入集合系统被认为是血尿发生的原因。虽然出血进入囊肿也很常见，但其典型表现为疼痛而非血尿，因为许多囊肿并不与集合系统相交通[2]。经保守治疗，囊肿破裂所致血尿常在2-7日内缓解。保守治疗包括卧床休息、补充水分，和非甾体类药物以外的镇痛药。一些病例可能要停用降压药[4]。出血偶尔可持续数周。对于少见的严重出血，可能需要进行经皮动脉栓塞甚至肾切除术[5]。

肉眼血尿更可能出现在肾脏较大(特别是长度>15cm时)、高血压和血浆肌酐浓度较高的个体[4,6]。30岁之前频繁发作肉眼血尿可能和肾脏结局较差相关；这可能反映了囊肿加速膨胀[7]。

肾结石是ADPKD患者出现血尿的另一个原因。肾结石相关的血尿通常是镜下血尿。排出或取出结石后血尿应该能缓解。长期或反复血尿(特别是对于50岁以上的男性)应考虑是否有潜在肾细胞癌[2]或有膀胱癌、前列腺癌或IgA肾病[8]等不相关疾病。 (参见下文‘肾癌’)

         

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Literature review current through: 2017-06 . | This topic last updated: 2016-10-05.
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