title: Bilateral renal dysplasia, nephroblastomatosis, and bronchial stenosis. A new syndrome?
abstract: Bilateral nephroblastomatosis (NB) is an uncommon renal anomaly characterized by multiple confluent nephrogenic rests scattered through both kidneys, with only a limited number of cases reported in the medical literature. Some of these children may have associated either Perlman or Beckwith-Wiedemann syndrome and others do not demonstrate syndromic features. We report a full-term boy with anteverted nose, bilateral bronchial stenosis due to lack of cartilage, bilateral obstructive renal dysplasia and NB with glomeruloid features. The infant had visceromegaly, but neither gigantism nor hemihypertrophy. Immunohistochemistry for PAX2 (Paired box gene-2) and WT-1 (Wilms Tumor 1) were strongly positive in the areas of NB. GLEPP-1 (Glomerular Epithelial Protein) did not stain the areas of NB with a glomeruloid appearance, but was positive in the renal glomeruli as expected. We found neither associated bronchial stenosis nor the histology of NB resembling giant glomeruli in any of the reported cases of NB.
authors: 1Department of Pathology, University of Miami, Holtz Children's Hospital , Miami, Florida , USA.
authors: Maria Matilde
authors: MM
authors: Rodriguez
authors: Mayrin
authors: M
authors: Correa-Medina
authors: Elizabeth E
authors: EE
authors: Whittington
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D001980:Bronchi / Q000002:abnormalities*; D003251:Constriction, Pathologic; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D007674:Kidney Diseases / Q000473:pathology*; D008297:Male
keywords: bronchial stenosis; nephroblastomatosis; nephrogenic rests; renal dysplasia