Schuster V, Uhlhaas S, Horwitz A E, Zerres K
Kinderklinik der Universität Würzburg.
Klin Padiatr. 1996 May-Jun;208(3):110-3. doi: 10.1055/s-2008-1046457.
Autosomal dominant polycystic kidney disease (ADPKD) is one of the commonest dominantly inherited disease with an estimated incidence of 1 in 1000. In the majority of cases the ADPKD gene locus is linked to chromosome 16p13.3-markers (PKD1). It has been estimated that approximately 2 percent of PKD1 gene carriers already present with severe clinical manifestation in childhood. In two families with early manifestation of ADPKD, DNA studies with markers of chromosome 16p allowed the determination of carrier status. A preclinical (predictive) DNA analysis of possible PKD gene carriers in childhood should not be performed as a routine examination. However, children of PKD gene carriers should be examined by pediatric nephrologists in order to allow early treatment of possible complications.
常染色体显性多囊肾病（ADPKD）是最常见的显性遗传病之一，估计发病率为千分之一。在大多数情况下，ADPKD基因位点与16号染色体p13.3标记（PKD1）相关联。据估计，约2%的PKD1基因携带者在儿童期就已出现严重临床表现。在两个ADPKD早期表现的家族中，使用16号染色体p标记进行的DNA研究可确定携带者状态。儿童期可能的PKD基因携带者的临床前（预测性）DNA分析不应作为常规检查进行。然而，PKD基因携带者的子女应由儿科肾病学家进行检查，以便对可能出现的并发症进行早期治疗。
