Mercer University School of Medicine, Macon, GA, USA.
Am Fam Physician. 2014 Sep 1;90(5):303-7.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney disease. Enlarging cysts within the kidneys are the clinical hallmark of the disease. Renal manifestations include varying degrees of kidney injury, urinary tract infections, kidney stones, and hematuria. Extrarenal manifestations can include pain, hypertension, left ventricular hypertrophy, hepatic cysts, intracranial aneurysm, diverticulosis, and abdominal and inguinal hernias. The progression of ADPKD cannot be reversed with current treatment modalities; therefore, therapies target the resulting clinical manifestations. Early detection and management of hypertension are important to delay the progression of renal dysfunction and development of cardiovascular complications. Pain management includes evaluation of concomitant illnesses, use of analgesics, and adjuvant therapy. Fluoroquinolones may be the most useful class of antibiotics for the treatment of urinary tract infections because of their lipophilic properties and bactericidal action against gram-negative pathogens. Nephrolithiasis is twice as common in persons with ADPKD compared with the general population and is suggested by flank pain with or without hematuria. Cystic hemorrhages usually resolve within one week, although microscopic hematuria may still be present. Because of the proliferative effect of estrogen on hepatic cysts, oral contraceptives containing estrogen and menopausal estrogen therapy should be administered at the lowest effective dose or avoided in patients with ADPKD. Intracranial aneurysms are at least twice as common in patients with ADPKD than in the general population. Renal ultrasonography is the diagnostic modality of choice to screen at-risk individuals for ADPKD.
常染色体显性多囊肾病(ADPKD)是最常见的遗传性肾脏疾病病因。肾脏内的囊肿增大是该疾病的临床特征。肾脏表现包括不同程度的肾损伤、尿路感染、肾结石和血尿。肾脏外表现可包括疼痛、高血压、左心室肥厚、肝囊肿、颅内动脉瘤、憩室病、腹疝和腹股沟疝。目前的治疗方法无法逆转 ADPKD 的进展;因此,治疗方法针对的是由此产生的临床表现。早期发现和管理高血压对于延缓肾功能衰竭和心血管并发症的发展非常重要。疼痛管理包括评估伴随疾病、使用镇痛药和辅助治疗。氟喹诺酮类药物因其亲脂性和对革兰氏阴性病原体的杀菌作用,可能是治疗尿路感染最有用的抗生素类别。与普通人群相比,ADPKD 患者的肾结石发病率高出一倍,其特征是腰痛伴或不伴血尿。囊性出血通常在一周内自行消退,尽管仍可能存在显微镜下血尿。由于雌激素对肝囊肿的增殖作用,含有雌激素的口服避孕药和绝经后雌激素治疗应在最低有效剂量下使用或避免在 ADPKD 患者中使用。颅内动脉瘤在 ADPKD 患者中的发病率至少是普通人群的两倍。肾脏超声是筛查 ADPKD 高危人群的首选诊断方法。