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Rare disease
Case report
Novel homozygous missense mutation in ABCA3 protein leading to severe respiratory distress in term infant
  1. Naveen Parkash Gupta1,
  2. Anil Batra1,
  3. Ratna Puri2 and
  4. Varun Meena1
  1. 1Neonatology, Madhukar Rainbow Children Hospital, Delhi, India
  2. 2Genetics, Sir Ganga Ram Hospital, Delhi, India
  1. Correspondence to Dr Naveen Parkash Gupta; drgupta.naveen{at}gmail.com

Abstract

The term baby presented with respiratory distress with X-ray pictures consistent as hyaline membrane disease (HMD). Baby was ventilated and treated with surfactant. Because of the persistence of high ventilation needs with X-ray pictures consistent with HMD with a transient response to surfactant every time, the possibility of an inherited disorder of surfactant metabolism was kept. Whole-exome sequencing revealed a novel homozygous missense mutation in the gene for ATP binding cassette transporter protein A3. The baby died after 100 days of ventilation.

  • pneumomediastinum
  • neonatal and paediatric intensive care
  • neonatal intensive care
  • genetics

https://doi.org/10.1136/bcr-2020-235520

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    Footnotes

    • Contributors NPG is involved with making diagnosis and writing manuscript. AB and VM helped in clinical management of case RP was involved in genetics part related to case.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Parent/guardian consent obatined.

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