Abstract
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.
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.
| Original language | English |
|---|---|
| Article number | archdischild-2021-322910 |
| Pages (from-to) | 456-462 |
| Number of pages | 7 |
| Journal | Archives of Disease in Childhood: Education and Practice Edition |
| Volume | 108 |
| Issue number | 6 |
| Early online date | 4 Jul 2023 |
| DOIs | |
| Publication status | E-pub ahead of print - 4 Jul 2023 |
Bibliographical note
Funding Information:This study was funded by Medical Research Council (grant number: MR/K010492/1).
Publisher Copyright:
© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.