Bonny Olivier, Chehade Hassib, Fellmann Florence, Qanadli Salah Dine, Barbey Frédéric
Service de néphrologie, Département de médecine, CHUV, Lausanne.
Rev Med Suisse. 2010 Mar 3;6(238):454-9.
Autosomal dominant polycystic kidney disease is one of the most prevalent genetic diseases and every general practitioner may have to counsel these patients. The follow-up of the patients carrying the trait has changed substantially lately and new treatments have been developed and are close to get approval. We review here the new ultrasound diagnostic criteria, the place of the renal volumetry by MRI in the follow-up, the place of the genetic molecular diagnosis and we discuss the pathogenesis and the future treatment that are in phase III clinical studies and will soon change completely the outcome of the disease.
常染色体显性多囊肾病是最常见的遗传病之一,每位全科医生都可能需要为这些患者提供咨询。携带该特征患者的随访情况最近有了很大变化,并且已经开发出了新的治疗方法,且即将获得批准。我们在此回顾新的超声诊断标准、MRI肾脏容积测量在随访中的地位、基因分子诊断的地位,并讨论处于III期临床研究且将很快彻底改变该病预后的发病机制和未来治疗方法。