Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2

被引：54

作者：

Pirson, Y

Lannoy, N

Peters, D

Geubel, A

Gigot, JF

Breuning, M

VerellenDumoulin, C

机构：

[1] UNIV LOUVAIN,SCH MED,CTR HUMAN GENET,BRUSSELS,BELGIUM

[2] UNIV LOUVAIN,SCH MED,NEPHROL UNIT,BRUSSELS,BELGIUM

[3] UNIV LOUVAIN,SCH MED,GASTROENTEROL UNIT,BRUSSELS,BELGIUM

[4] UNIV LOUVAIN,SCH MED,SURG UNIT,BRUSSELS,BELGIUM

[5] LEIDEN UNIV,DEPT GENET,LEIDEN,NETHERLANDS

来源：

HEPATOLOGY | 1996年 / 23卷 / 02期

关键词：

D O I：

10.1002/hep.510230208

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Polycystic liver disease (PLD) is proven to occur either sporadically or in association with autosomal dominant polycystic kidney disease (ADPKD), whereas the existence of an isolated (i.e., without any kidney cyst) familial form is disputed. We describe a family with definitely isolated PLD transmitted through three generations and exclude the linkage of the disease to the genetic markers of PKD1 and PKD2, the two main loci responsible for ADPKD. These findings strongly support the existence of PLD as a genetic disease distinct from the known forms of ADPKD.

引用

页码：249 / 252

页数：4

共 21 条

[1]

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[2] 2 STEP PROCEDURE FOR EARLY DIAGNOSIS OF POLYCYSTIC KIDNEY-DISEASE WITH POLYMORPHIC DNA MARKERS ON BOTH SIDES OF THE GENE [J].