Grünfeld J P, Joly D
Service de néphrologie, Hôpital Necker, Paris.
Rev Prat. 1997 Sep 15;47(14):1566-9.
Inherited kidney diseases are frequently encountered in adults; the diagnosis is often made and they usually progress to renal failure at this age. Autosomal dominant polycystic kidney disease is the most prevalent. It is one of the most common inherited diseases, involving 1 in 400 to 1,000 individuals. Renal cysts growth is responsible for hypertension and renal failure; polycystic kidney disease represents 6 to 7% of the causes of end-stage renal failure in adults. The disease also encompasses extra-renal localisations, i.e. liver cysts and intra-cranial aneurysms. Multiple renal cysts may be found in other inherited disorders, such as tuberons sclerosis and von Hippel-Lindau disease. Alport syndrome is the second most prevalent inherited kidney disease, characterized by various abnormalities of type IV collagen molecules. Molecular diagnosis is possible in some families, which makes genetic counselling more reliable. Finally renal involvement is frequent in a great variety of inherited metabolic (Fabry's disease, glycogen storage disease type 1, hyperuricemic nephropathy) or non-metabolic (nail-patella or Bardet-Biedl syndrome) diseases.
成人中常遇到遗传性肾脏疾病;通常在此年龄段做出诊断,且这些疾病往往会发展为肾衰竭。常染色体显性多囊肾病最为常见。它是最常见的遗传性疾病之一,每400至1000人中就有1人患病。肾囊肿的生长会导致高血压和肾衰竭;多囊肾病占成人终末期肾衰竭病因的6%至7%。该疾病还包括肾外病变,即肝囊肿和颅内动脉瘤。在其他遗传性疾病中也可能发现多发性肾囊肿,如结节性硬化症和冯·希佩尔-林道病。奥尔波特综合征是第二常见的遗传性肾脏疾病,其特征是IV型胶原分子存在各种异常。在一些家族中可以进行分子诊断,这使得遗传咨询更可靠。最后,在多种遗传性代谢疾病(法布里病、1型糖原贮积病、高尿酸血症肾病)或非代谢疾病(指甲-髌骨综合征或巴德-比德尔综合征)中,肾脏受累也很常见。