Document Detail

Congenital nephrotic syndrome.
MedLine Citation:
PMID:  11261689     Owner:  NLM     Status:  MEDLINE    
A female infant born at 34 weeks' gestation after several days of ruptured membranes had a Potter-like face and compression-induced limb posture consistent with oligohydramnios. Oedema developed on day 2; initial investigations showed massive proteinuria, hypoalbuminaemia, hyponatraemia, acidosis and marked renal insufficiency. The infant was intubated and despite albumin infusion and intravenous antibiotics she became oligoanuric by day 8 and required haemofiltration. Renal biopsy at this stage showed cystic dilatation of tubules in the cortex and glomerular lesions consisting of shrunken tufts with sclerotic centres and a corona of epithelial cells at the periphery. Due to a very poor prognosis treatment was withdrawn. Postmortem examination of the kidneys confirmed the histological diagnosis of diffuse mesangial sclerosis. Genetic studies found no mutations in WT1 and NPHS1 genes although the entire genes could not be screened for mutations due to lack of DNA.
A Koziell; V K Iyer; N E Moghul; P Ramani; C M Taylor
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric nephrology (Berlin, Germany)     Volume:  16     ISSN:  0931-041X     ISO Abbreviation:  Pediatr. Nephrol.     Publication Date:  2001 Feb 
Date Detail:
Created Date:  2001-03-22     Completed Date:  2001-06-07     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8708728     Medline TA:  Pediatr Nephrol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  185-9     Citation Subset:  IM    
The Institute of Child Health, University College London Medical School, UK.
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MeSH Terms
Fatal Outcome
Infant, Newborn
Infant, Premature
Kidney / pathology
Nephrotic Syndrome / congenital*,  genetics,  pathology
Comment In:
Pediatr Nephrol. 2001 Feb;16(2):190-1   [PMID:  11261690 ]

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