Document Detail

Diffuse renal cystic disease in children: morphologic and genetic correlations.
MedLine Citation:
PMID:  9630032     Owner:  NLM     Status:  MEDLINE    
During a 5-year period, we evaluated seven infants and two fetuses who presented with enlarged, hyperechoic kidneys. In each, the initial clinical diagnosis was autosomal recessive polycystic kidney disease (ARPKD). Among the seven unrelated infants were three Caucasian and four African-American infants. No syndromic stigmata were evident in any of these infants. At the time of the initial evaluation, the family data were incomplete for four infants. The two fetuses were presumed to be at-risk for ARPKD based on the diagnosis in previous siblings. Renal histopathology was evaluated in all nine cases and revealed a spectrum of cystic disease ranging from ARPKD to glomerulocystic kidney disease to autosomal dominant polycystic kidney disease to diffuse cystic dysplasia. In the eight cases for whom liver histopathology was available, varying degrees of biliary dysgenesis were evident. We present a detailed analysis of the key histopathological features in each case and discuss the histopathological findings in an embryological context. In addition, we address the current role of molecular genetics in the diagnostic evaluation.
L M Guay-Woodford; C A Galliani; E Musulman-Mroczek; G S Spear; A P Guillot; J Bernstein
Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Pediatric nephrology (Berlin, Germany)     Volume:  12     ISSN:  0931-041X     ISO Abbreviation:  Pediatr. Nephrol.     Publication Date:  1998 Apr 
Date Detail:
Created Date:  1998-08-06     Completed Date:  1998-08-06     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8708728     Medline TA:  Pediatr Nephrol     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  173-82     Citation Subset:  IM    
Department of Medicine, University of Alabama at Birmingham, 35294, USA.
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MeSH Terms
Infant, Newborn
Kidney / pathology
Kidney Diseases, Cystic / genetics*,  pathology*
Polycystic Kidney, Autosomal Dominant / genetics,  pathology
Polycystic Kidney, Autosomal Recessive / genetics,  pathology
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