Autosomal recessive polycystic kidney disease (ARPKD)

被引：2

作者：

Zerres, K ^{[1
]}

Rudnik-Schöneborn, S ^{[1
]}

Senderek, J ^{[1
]}

Eggermann, T ^{[1
]}

Bergmann, C ^{[1
]}

机构：

[1] Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany

来源：

JOURNAL OF NEPHROLOGY | 2003年 / 16卷 / 03期

关键词：

autosomal recessive polycystic kidney disease; polycystic kidney and hepatic disease 1; congenital hepatic fibrosis; mutation analysis;

D O I：

暂无

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

Autosomal recessive polycystic kidney disease (ARPKD) is an important hereditary early childhood nephropathy. However, the clinical ARPKD spectrum is much more variable than is generally presumed. Presentation of ARPKD at a later age and survival into adulthood is well known. Diagnostic criteria, clinical course, differential diagnoses, genetics and molecular biology will be discussed along with the advantages and limitations of mutation detection in clinical practice.

引用

页码：453 / 458

页数：6

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