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Neonatal stroke and haematuria: Answers

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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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Author information

Authors and Affiliations

  1. Division of Nephrology, The Hospital for Sick Children, Toronto, ON, Canada

    Sally Kellett, Mathieu Lemaire, Christoph Licht & Damien Noone

  2. Department of Paediatrics, University of Toronto, Toronto, ON, Canada

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

  3. Division of Neurology, The Hospital for Sick Children, Toronto, ON, Canada

    Steven P. Miller & Nomazulu Dlamini

  4. Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada

    Grace Yoon

Authors
  1. Sally Kellett
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  2. Mathieu Lemaire
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  3. Steven P. Miller
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  4. Christoph Licht
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  5. Grace Yoon
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  6. Nomazulu Dlamini
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Correspondence to Sally Kellett.

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Additional information

This refers to the article that can be found at http://dx.doi.org/10.1007/s00467-017-3745-x.

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Kellett, S., Lemaire, M., Miller, S.P. et al. Neonatal stroke and haematuria: Answers. Pediatr Nephrol 33, 807–811 (2018). https://doi.org/10.1007/s00467-017-3747-8

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  • DOI: https://doi.org/10.1007/s00467-017-3747-8

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