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NDT Advance Access published online on May 23, 2008
Nephrology Dialysis Transplantation, doi:10.1093/ndt/gfn288
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© The Author [2008]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org


Nephrectomy in an autosomal recessive polycystic kidney disease (ARPKD) patient with rapid kidney enlargement and increased expression of EGFR

Anja Arbeiter1, Rainer Büscher1, Klaus-Eugen Bonzel1, Anne-Margret Wingen1, Udo Vester1, Jeremias Wohlschläger2, Klaus Zerres3, Jens Nürnberger4, Carsten Bergmann3 and Peter F. Hoyer1

1 Department of Pediatrics II 2 Department of Pathology, University of Duisburg-Essen, Hufelandstr. 55, 45122 Essen 3 Department of Human Genetics, RWTH Aachen University Hospital, Pauwelsstr. 30, 52074 Aachen 4 Department of Nephrology, University of Duisburg-Essen, Hufelandstr. 55, 45122 Essen, Germany

Correspondence and offprint requests to: Rainer Büscher, Department of Pediatrics II, University of Duisburg-Essen, Hufelandstr. 55, 45122 Essen, Germany. Tel: +49-201-723-3350; Fax: +49-201-723-5947; E-mail: rainer.buescher@uk-essen.de

Keywords: ARPKD; haemodialysis; lung hypoplasia; oligohydramnion; PKHD1 gene

The first 150 words of the full text of this article appear below.



   Introduction
 
Autosomal recessive polycystic kidney disease (ARPKD) is a hereditary disorder with an incidence of 1/10 000 to 1/40 000 individuals [1,2]. ARPKD is caused by mutations in the PKHD1 gene on chromosome 6p12 [3,4]. Prenatally, oligohydramnion, enlarged kidneys and lung hypoplasia with the typical Potter facies become evident. Principal histological manifestations involve the fusiform dilation of renal collecting ducts and distal tubuli as well as dysgenesis of the hepatic portal triad (so-called ductal plate malformation with congenital hepatic fibrosis and hyperplastic biliary ducts). The spectrum of the disease is highly variable ranging from severe perinatal manifestations to later onset and milder forms. Severe phenotypes are more often associated with truncating PKHD1 changes than moderately affected individuals [5,6]. Especially children with severe renal disease show a high perinatal mortality. Death is often caused by respiratory insufficiency due to lung hypoplasia and displacement of the diaphragm by bilateral . . . [Full Text of this Article]



   Case report
 


   Discussion
 

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