Three Infants with Pathogenic Variants in the ABCA3 Gene: Presentation, Treatment, and Clinical Course

Si, Xin; Steffes, L.C.; Schymick, Jennifer C.; Hazard, Florette K.; Tracy, Michael C.; Cornfield, David N.

doi:10.1016/j.jpeds.2020.12.055

Cited by 4 publications

(1 citation statement)

References 46 publications

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“…Neurodevelopmental delay and muscular atrophy were described by El Boustany et al in a girl with severe respiratory failure after 4 years of mechanical ventilation through tracheostomy (12). Si et al observed developmental delay of varying severity and poor weight gain in three patients with ABCA3 mutations and they related it to probable chronic illness sequelae (13).…”

Section: F O R P U B L I C a T I O Nmentioning

confidence: 95%

Surfactant dysfunction and neurodevelopmental delay: a new ABCA3 mutation

Plebani,

Luini,

Bresesti

et al. 2023

Pediatr Respir J

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ABCA3 is a transmembrane protein found on the limiting membrane of lamellar bodies of alveolar type II cells. Its role is the transport of phospholipids for surfactant production. Over 200 ABCA3 mutations are known to compromise ABCA3 functions and bring to different phenotypes, from neonatal respiratory distress syndrome to childhood or adult diffuse interstitial lung diseases.We report the case of a19-month-old girl, born at term age, developing respiratory distress six hours after birth. During the first months of life, she developed recurrent long-lasting and oxygen-dependent lower respiratory tract infections, failure to thrive and neurodevelopmental delay. Because a surfactant deficiency washypothesised, the four genes responsible for primary surfactant dysfunction were analysed by Next Generation Sequencing. Two mutations were found in the ABCA3 gene (c.2888A > G and c.4714C > T), one inherited from each parent.To our knowledge, there is no previous reporting of correlation between ABCA3 mutation and neurodevelopmental delay. Neurological abnormalities are instead related to another surfactant dysfunction, caused by NKX2-1gene mutation. Further cases and accurate genetic diagnosis could be useful to validate this new correlation.

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Section: F O R P U B L I C a T I O Nmentioning

confidence: 95%

Surfactant dysfunction and neurodevelopmental delay: a new ABCA3 mutation

Plebani,

Luini,

Bresesti

et al. 2023

Pediatr Respir J

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Interstitial lung disease in the newborn

Giunta-Stibb,

Hackett

2024

J Perinatol

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Clinical course and long-term follow-up of a preterm infant with non-fatal respiratory distress syndrome due to heterozygous ABCA3 gene mutation: A case report and review of literature

Jasthi

Kollikonda

Karnati

2022

NPM

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BACKGROUND: Adenosine triphosphate-binding cassette transporter A3 (ABCA3) mutations are recognized as a congenital cause of surfactant deficiency. Clinical presentations of such mutations are largely variable. There are many mutations of the ABCA3 gene, of which, p.E292V is the most common. Despite being the most common ABCA3 gene mutation, there is limited literature on extra pulmonary and long-term outcomes of the affected infants. CASE: We present the case of a Caucasian male infant born at 32 weeks gestation that developed severe respiratory distress shortly after birth, and review published case reports and case series of infants affected with this gene mutation. He was found to have a heterozygous missense mutation p.E292V of ABCA3 resulting in a chronic lung disease. He required multiple courses of systemic and inhalational steroids. He developed supraventricular tachycardia (SVT), feeding problems and hypotonia during his prolonged hospital stay. He demonstrated mild neurodevelopmental delays on follow up at 18 months of age. The chronic lung disease improved over the first 2 years of life. He continued to have feeding difficulties and supraventricular tachycardia at nearly 2 years of age. CONCLUSION: The infant’s SVT may be associated with this ABCA3 variant. Further long-term follow-up studies are needed to better characterize extrapulmonary manifestations of this ABCA3 mutation.

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Three Infants with Pathogenic Variants in the ABCA3 Gene: Presentation, Treatment, and Clinical Course

Cited by 4 publications

References 46 publications

Surfactant dysfunction and neurodevelopmental delay: a new ABCA3 mutation

Surfactant dysfunction and neurodevelopmental delay: a new ABCA3 mutation

Interstitial lung disease in the newborn

Clinical course and long-term follow-up of a preterm infant with non-fatal respiratory distress syndrome due to heterozygous ABCA3 gene mutation: A case report and review of literature

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