Lespinasse James, Fourcade Jacques, Schir Franz
Division de génétique médicale, hôpital Sainte-Justine, Montréal, Québec, Canada.
Nephrol Ther. 2006 Jul;2(3):120-6. doi: 10.1016/j.nephro.2006.03.001. Epub 2006 Jun 27.
Autosomal dominant polycystic kidney disease (ADPKD) affects 1 newborn in 400 to 1000 making it the most common inherited form of genetic kidney disease and an important cause of medical morbidity and account for about 10% of end-stage renal disease. Autosomal recessive polycystic kidney disease (ARPKD) is a rare (1/20,000 to 1/40,000) inherited disease in children characterized by the association of dilation of collecting ducts and biliary dysgenesis. The clinical spectrum is variable but it represents an important cause of renal and liver-related morbidity and mortality in neonates and infancy. Symptoms of autosomal recessive PKD can begin before birth. ARPKD is genetically different from ADPKD. Parents who do not have the disease can have a child with the disease if both parents carry the abnormal gene and both pass the gene to their baby. Recently important advances in understanding the molecular basis of ADPKD (i.e. ADPKD1 and ADPKD2) and autosomal recessive PKD (i.e. PKHD1) have been done and are reported here. Genetic counselling is particularly advised in early onset disease families. It permits to determine the type of transmission, to describe the course and the major complications of the disease and to explain currents therapeutics possibilities.
常染色体显性多囊肾病（ADPKD）在400至1000名新生儿中就有1例受其影响，使其成为最常见的遗传性肾脏疾病形式，也是医学发病的重要原因，约占终末期肾病的10%。常染色体隐性多囊肾病（ARPKD）是一种罕见的（1/20000至1/40000）儿童遗传性疾病，其特征是集合管扩张与胆管发育异常相关。临床谱各不相同，但它是新生儿和婴儿期肾脏及肝脏相关发病和死亡的重要原因。常染色体隐性多囊肾病的症状可在出生前就开始出现。ARPKD在基因上与ADPKD不同。如果父母双方都携带异常基因且都将该基因传给他们的婴儿，那么没有患病的父母可能会生出患有该病的孩子。最近在理解ADPKD（即ADPKD1和ADPKD2）和常染色体隐性多囊肾病（即PKHD1）的分子基础方面取得了重要进展，并在此进行报道。对于早发性疾病家庭，特别建议进行遗传咨询。它有助于确定遗传类型，描述疾病的病程和主要并发症，并解释当前的治疗可能性。
