Document Detail


Congenital hypernephronic nephromegaly with tubular dysgenesis: a distinctive inherited renal anomaly.
MedLine Citation:
PMID:  3835549     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
This paper describes a distinct, apparently inherited renal disorder we call congenital hypernephronic nephromegaly with tubular dysgenesis. The disorder is characterized by oligohydramnios, the Potter phenotype, and enlarged nonfunctional kidneys. Light microscopy demonstrates increased numbers of glomeruli, undifferentiated tubules, and interstitial fibrosis. Microdissection reveals short, immature nephrons that lack proximal convolutions, and abnormal vascularization of the glomerulus. Morphometric analysis demonstrates increased glomerular mass, primarily in the region of the corticomedullary junction, increased interstitial mass, and decreased tubular mass. The parameters that define this anomaly are presented, and the possible mechanisms of pathogenesis are discussed in relation to pathologic observations and current concepts concerning renal embryogenesis and differentiation. The recurrence of this anomaly in the male children of a consanguineous couple suggests an X-linked recessive mode of inheritance, although an autosomal-recessive mode of inheritance cannot be ruled out. This condition indicates that not all cases of the Potter phenotype can be considered to be sporadic.
Authors:
J R Voland; E P Hawkins; T R Wells; B Saunders; M Jones; K Benirschke
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, Non-P.H.S.    
Journal Detail:
Title:  Pediatric pathology / affiliated with the International Paediatric Pathology Association     Volume:  4     ISSN:  0277-0938     ISO Abbreviation:  Pediatr Pathol     Publication Date:  1985  
Date Detail:
Created Date:  1986-06-27     Completed Date:  1986-06-27     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8303527     Medline TA:  Pediatr Pathol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  231-45     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Amniotic Fluid
Consanguinity
Female
Genes, Recessive
Humans
Infant, Newborn
Kidney / abnormalities*,  blood supply,  pathology
Kidney Tubules / abnormalities*,  pathology
Male
Microscopy, Electron
Nephrons / abnormalities,  pathology
Pedigree
Phenotype
Sex Factors
X Chromosome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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