A Novel Homozygous Mutation ABCA3gene: Presented as Sever Respiratory Distress Syndrome in a Term Neonate

Dr. Mujtaba.A. Al Ajmi; Dr. Samiya Al Hashmi; Dr. Jazel Manarang; Dr. Hussein Al Lawati

doi:10.34257/GJMRFVOL21IS5PG17

A Novel Homozygous Mutation ABCA3gene: Presented as Sever Respiratory Distress Syndrome in a Term Neonate

Dr. Mujtaba.A. Al Ajmi *

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Dr. Samiya Al Hashmi

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Dr. Jazel Manarang

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Dr. Hussein Al Lawati

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A Novel Homozygous Mutation ABCA3gene: Presented as Sever Respiratory Distress Syndrome in a Term Neonate

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DOI
10.34257/GJMRFVOL21IS5PG17

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Abstract

Congenital surfactant deficiency is a rare condition diagnosed in newborns who present with respiratory distress at birth. We report a case of a term Omani neonate with fatal surfactant protein deficiency who was admitted to the Neonatal Intensive Care Unit (NICU)of the Royal Hospital with respiratory distress syndrome with persistent interstitial infiltrates on serial chest xray responsive to intermittent surfactant administration. He underwent a lung biopsy, and immunohistochemistry confirmed the diagnosis of congenital surfactant protein deficiency. However, despite aggressive treatment and supportive measures, his condition rapidly deteriorated, and he succumbed after two months of admission. This case report will highlight and review surfactant deficiency differential diagnoses, management, and complications.

References

13 Cites in Article

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Funding

No external funding was declared for this work.

Conflict of Interest

The authors declare no conflict of interest.

Ethical Approval

No ethics committee approval was required for this article type.

Data Availability

Not applicable for this article.

How to Cite This Article

Dr. Ajmi, Dr. Hashmi, Dr. Manarang, Dr. Lawati. 2021. "A Novel Homozygous Mutation ABCA3gene: Presented as Sever Respiratory Distress Syndrome in a Term Neonate". Global Journal of Medical Research, Global Journal of Medical Research - F: Diseases GJMR-F Volume 21 (GJMR Volume 21 Issue F5).

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GJMR Volume 21 Issue F5

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Journal Specifications

Crossref Journal DOI 10.17406/gjmr

Print ISSN 0975-5888

e-ISSN 2249-4618

Keywords

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Classification

GJMR-F Classification NLMC Code: WF 140

Submission ReceivedFebruary 4, 2021
Peer Review Double Blind
Handling Editor
Accepted March 1, 2021
Published March 15, 2021

Version of record

v1.2

Issue date

July 26, 2021

Language

English

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