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How to solve a clinical conundrum: Have you tried a trio exome analysis?
  1. Felicity Beal1,
  2. Richard Coward2,3,
  3. Caroline Platt3
  1. 1 Paediatric Education Fellow, Bristol Royal Hospital for Children, Bristol, UK
  2. 2 School of clinical Sciences, University of Bristol Academic Renal Unit, Bristol, UK
  3. 3 Department of Paediatric Nephrology, Bristol Royal Hospital for Children, Bristol, UK
  1. Correspondence to Dr Caroline Platt, Department of Paediatric Nephrology, Bristol Royal Hospital for Children, Bristol B15 3JU, UK; caroline.platt2{at}


The following report describes the clinical journey of a 5-month-old male infant who presented with a significant kidney injury following a diarrhoeal illness. His course was complicated by severe hypertension and a number of acute life-threatening events necessitating periods of time on the intensive care unit, where he received ventilatory support and underwent renal replacement therapy and treatment with a monoclonal antibody therapy.

We take the reader on a stepwise journey from presentation through to final diagnosis, discussing important biochemical, haematological and radiological features where learning points are discussed. Guidance on the use of genomic testing strategies for the non-geneticist is provided in some detail with a particular focus on the trio exome analysis that identified the diagnosis for this young boy.

This complex case not only provides a number of excellent learning opportunities but also highlights the importance of early involvement of the clinical genetics team and the relevance of the trio exome analysis for rapid identification of rare monogenic diseases.

  • paediatrics
  • nephrology
  • genetics

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  • Twitter @FelicityBeal1, @CazPlatt

  • FB, RC and CP contributed equally.

  • Funding This study was funded by Medical Research Council (grant number: MR/K010492/1).

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.