EC Paediatrics

Case Report Volume 12 Issue 1 - 2023

The First Saudi Case Report of Infrequent Mutation in ABCA-3 Gene

Ali Hussain Ali Alramadhan1* , Samar Mohammed Ali Albahlool2, Mai Ali Al-Hassan3 and Shirin Al Sharfa4

1Department of Pediatrics, Pulmonary Unit, Qatif Central Hospital, Al Qatif, Kingdom of Saudi Arabia
2Department of Pediatrics, Qatif Central Hospital, Al Qatif, Kingdom of Saudi Arabia
3Department of Pediatrics, Neonatology Unit, Qatif Central Hospital, Al Qatif, Kingdom of Saudi Arabia
4Department of Pediatrics, Clinical Genetics and Metabolic disease Unit, Qatif Central Hospital, Al Qatif, Kingdom of Saudi Arabia
*Corresponding Author: Ali Hussain Ali Alramadhan, Consultant Pediatrician and Pulmonologist, Department of Pediatrics, Qatif Central Hospital (QCH), Al Qatif, Kingdom of Saudi Arabia.
Received: November 28, 2022; Published: December 05, 2022

Respiratory distress symptoms manifest immediately after birth is common and can be due to abnormal respiratory function during transition from fetal to neonatal life. However persistent symptoms can be related to respiratory or non-respiratory causes. One of the comments causes of admission to Neonatal Intensive Care Unit (NICU) is respiratory distress syndrome (RDS) which can be either due to surfactant deficiency or defect in surfactant synthesis.

We are reporting a rare case of a non-dysmorphic Saudi neonate delivered by emergency lower segment cesarean section to a consanguineous parent with no living children, who lost their previous baby in early neonatal period with undiagnosed hypoxemic respiratory failure. Our baby presented immediately after birth with significant respiratory distress and progressive respiratory failure, chest x-ray and chest computed tomography scan (CT) were suggestive of diffuse interstitial lung disease. Patient received multiple doses of surfactant and maximum supportive therapy but unfortunately died at age of 38 days. Later, the result of Tri Whole Exome Sequence (WES) showed homozygous missense mutation c.4658T>C (p.Leu1553Pro) in ABCA3 gene which gives a pulmonary surfactant metabolism dysfunction which is pathogenic mutation, first to be described in Saudi population and reported before by others.

We aim from reporting this case: First, to suspect congenital defect in surfactant metabolism in any neonate with progressive respiratory distress/failure not responsive to any standard managements. Second, to call for collaboration between tertiary and other hospitals to facilitate the genetic diagnosis. And third, to encourage different societies’ members with high authorities in the kingdom to establish a Saudi Childhood interstitial lung diseases (ChILDs)/Surfactant Mutations’ Registry for initiation of a pediatric lung transplant program till genetic engineering therapy for such mutation sees the light, as every single life is valuable.

Keywords: ABCA-3 mutation; Surfactant Protein Deficiency; Neonate; Pediatric; Respiratory Disease; Lung Developmental Disorders; Interstitial Lung Disease of Childhood; Genetic Disorders of Surfactant Dysfunction; Surfactant Metabolism Dysfunction; Inherited Pulmonary Disease; Pulmonary Surfactant; Surfactant Deficiency; Respiratory Distress Syndrome; Arab; Saudi Arabia; Al Qatif

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Ali Hussain Ali Alramadhan., et al. The First Saudi Case Report of Infrequent Mutation in ABCA-3 Gene. EC Paediatrics 12.1 (2023):01-08 .