Document Detail

Renal proximal tubular dysgenesis associated with severe neonatal hemosiderotic liver disease.
MedLine Citation:
PMID:  8066004     Owner:  NLM     Status:  MEDLINE    
We report the necropsy findings for three infants with the unusual combination of proximal renal tubular dysgenesis and severe congenital liver disease with excessive iron in several organs resembling neonatal hemochromatosis. Two of the infants were caucasian siblings and one was an Australian aborigine. One died in utero at 35 weeks of gestation and two died at 7 days. The liveborn infants presented with anuria and liver failure. The livers all showed marked loss of hepatocytes and replacement by pseudotubules in the collapsed lobules. The liveborn infants also showed giant cell transformation of hepatocytes, small regenerative nodules, cholestasis, and normal bile ducts. Absence of proximal renal convolutions was confirmed by epithelial membrane antigen positivity in nearly all tubules. In each family there was another sibling with congenital liver disease, fatal in one case, but no renal tubular dysgenesis. No infection or metabolic disease was uncovered in any of our patients, and the cause of the hepatocyte destruction was not determined. The combination in three infants of two rare congenital diseases could be genetic or acquired in utero from the same etiological agent. Alternatively, the absence of proximal convolutions could be secondary to hypoperfusion, perhaps because of shock due to extensive necrosis of hepatocytes.
P M Bale; A E Kan; S F Dorney
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric pathology / affiliated with the International Paediatric Pathology Association     Volume:  14     ISSN:  0277-0938     ISO Abbreviation:  Pediatr Pathol     Publication Date:    1994 May-Jun
Date Detail:
Created Date:  1994-09-22     Completed Date:  1994-09-22     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8303527     Medline TA:  Pediatr Pathol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  479-89     Citation Subset:  IM    
Department of Pathology, Royal Alexandra Hospital for Children, Sydney, New South Wales, Australia.
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MeSH Terms
Hemosiderosis / complications*
Infant, Low Birth Weight
Infant, Newborn
Iron / analysis
Kidney Diseases / complications*,  congenital,  pathology
Kidney Tubules, Proximal / abnormalities*,  pathology
Liver / metabolism,  pathology
Liver Diseases / complications*,  congenital,  pathology
Reg. No./Substance:

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