Autosomal Recessive Surfactant Metabolism Dysfunction Pulmonary III: A Clinical Case Report
Faizan Sadiq1*, Arooj Khan1, Ali Nawaz1, Syed Mohsin Ali Shah1 and Shaista Azeem Khan1
1 Khyber Teaching Hospital, Pakistan.
*Corresponding Author: Faizan Sadiq, Khyber Teaching Hospital, Pakistan.
DOI: https://doi.org/10.58624/SVOAPD.2024.03.085
Received: August 06, 2024 Published: November 11, 2024
Abstract
A female infant aging 4 months was presented with a history of respiratory distress and decreased oral intake since last 2 weeks with SpO2 of 84%. Intravenous antibiotic Ampicillin+ Cloxacillin & Cefotaxime was started, and supplemental oxygen was administered which improved SpO2 to 97%. The complete blood count demonstrated raised leukocyte count and chest radiography indicated lower RTI. Immunodeficiency workup was normal. Both MTB Gene Xpert as well as Fungal Hyphae were negative. HRCT chest revealed patchy subsegmental/subpleural atelectatic changes in the anterior and posterior segments of the right upper lobe, and the superior and basal segments of bilateral lower lobes. The patient’s genetic study tests were sent to Germany. On Day 21, oxygen saturation began to drop. On Day 38, Genetic Study report mentioned a homozygous likely pathogenic variant in the ABCA3 gene leading to diagnosis of Autosomal Recessive SMDP3. The child died on day 45.
Keywords: ABCA3 gene, Infants, Interstitial lung disease, Surfactant proteins, Respiratory disorders.
Citation: Sadiq F, Khan A, Nawaz A, Shah SMA, Khan SA. Autosomal Recessive Surfactant Metabolism Dysfunction Pulmonary III: A Clinical Case Report. SVOA Paediatrics 2024, 3:6, 176-179. doi:10.58624/SVOAPD.2024.03.085