Phenotype/genotype correlations in the ultrastructure of monogenetic glomerular diseases.

Abstract:

:Electron microscopy defined classic patterns of hereditary glomerular disease long before genetics revealed an underlying specific mutation. Genetic analysis is now easier to perform in clinical practice but an earlier optimism that genetics would predict disease severity and phenotype is challenged. The classic paradigm is Alport nephritis in which only a subset of mutations may predict glomerular abnormalities and disease severity. Interpretation of ultrastructural pathology of monogenetic diseases like Alport nephritis is complicated when the proband is the first family member to be diagnosed or there is discrepancy between clinical presentation and ultrastructural changes. In this review the authors have selected a dozen cases representative of common monogenetic glomerular diseases as a platform to discuss the utility of diagnostic electron microscopy in the era of molecular genetics. The emphasis is on genotype/glomerular phenotype correlations.

journal_name

Ultrastruct Pathol

authors

Liapis H,Foster K,Theodoropoulou E,Monga G,Pizzolitto S,Mazzucco G

doi

10.1080/019131290505194

subject

Has Abstract

pub_date

2004-07-01 00:00:00

pages

181-97

issue

4

eissn

0191-3123

issn

1521-0758

journal_volume

28

pub_type

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