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Pediatric Nephrology
Published in: Pediatric Nephrology 5/2012

01-05-2012 | Brief Report

Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR

Authors: Anja Lehnhardt, Albert Lama, Kerstin Amann, Verena Matejas, Martin Zenker, Markus J. Kemper

Published in: Pediatric Nephrology | Issue 5/2012

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Abstract

Background

Pierson syndrome, caused by mutations in the LAMB2 gene, was originally described as a combination of microcoria and congenital nephrotic syndrome, rapidly progressing to end-stage renal failure.

Case-Diagnosis/Treatment

We report a minor variant of Pierson syndrome in a teenage girl with severe myopia since early infancy and proteinuria first detected at age 6. At the age of 11 she was found to carry a unique homozygous non-truncating LAMB2 mutation in exon 2: c.T240G (p.S80R). Renal biopsy revealed mild diffuse mesangial sclerosis and residual expression of laminin β2. Today at age 14, on treatment with angiotensin-converting enzyme inhibitors and angiotensin receptor blockers, she continues to have nephrotic range proteinuria, but a normal glomerular filtration rate.

Conclusions

LAMB2 mutations should be considered in all patients with glomerular proteinuria and abnormal ocular phenotype, irrespective of age and disease severity.
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Metadata
Title
Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR
Authors
Anja Lehnhardt
Albert Lama
Kerstin Amann
Verena Matejas
Martin Zenker
Markus J. Kemper
Publication date
01-05-2012
Publisher
Springer-Verlag
Published in
Pediatric Nephrology / Issue 5/2012
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-011-2088-2

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