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Published in: Pediatric Nephrology 5/2018

01-05-2018 | Clinical Quiz

Neonatal stroke and haematuria: Answers

Authors: Sally Kellett, Mathieu Lemaire, Steven P. Miller, Christoph Licht, Grace Yoon, Nomazulu Dlamini, Damien Noone

Published in: Pediatric Nephrology | Issue 5/2018

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Abstract

Background

This is a report of an infant born near term with neonatal stroke and haematuria. The renal phenotype, pathogenic genotype and pathological findings on renal biopsy are discussed.

Case-Diagnosis

Prenatal magnetic resonance imaging revealed anomalies which persisted postnatally. Haematuria was detected during follow-up. The posttnatal renal ultrasound scan was normal, and there was no associated proteinuria. A likely pathogenic genetic mutation was detected.

Conclusions

This case highlights a relatively newly discovered cause of hereditary nephropathy in which the basement membrane is affected, with initial effects on the glomerular membranes and subsequent effects on the renal tubular basement membranes.
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Metadata
Title
Neonatal stroke and haematuria: Answers
Authors
Sally Kellett
Mathieu Lemaire
Steven P. Miller
Christoph Licht
Grace Yoon
Nomazulu Dlamini
Damien Noone
Publication date
01-05-2018
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Nephrology / Issue 5/2018
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-017-3747-8

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