Related Experiment Video

Updated: Jun 7, 2026

Development of a Neonatal Piglet Acute Lung Injury Model Recreating the Early Environment of Preterm Infant Lungs
08:58

Development of a Neonatal Piglet Acute Lung Injury Model Recreating the Early Environment of Preterm Infant Lungs

Published on: October 31, 2025

Evaluation and management of inherited disorders of surfactant metabolism

Aaron Hamvas1

  • 1Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri 63110, USA. hamvas@kids.wustl.edu

Chinese Medical Journal
|November 2, 2010
PubMed

Insights

Inherited surfactant metabolism disorders cause severe respiratory issues in children. Management varies from lung transplants for acute neonatal cases to supportive care for chronic conditions.

Area of Science:

  • Pediatric Pulmonology
  • Genetic Respiratory Diseases
  • Neonatal Respiratory Distress

Background:

  • Inherited disorders of surfactant metabolism are rare genetic conditions affecting lung function.
  • Mutations in SFTPB, SFTPC, ABCA3, and NKX2.1 genes disrupt surfactant production or function.
  • These disorders manifest as acute neonatal respiratory failure or chronic respiratory insufficiency.

Purpose of the Study:

  • To review the pathophysiology, evaluation, management, and outcomes of inherited surfactant metabolism disorders.
  • To consolidate current knowledge on genetic causes including SFTPB, SFTPC, ABCA3, and NKX2.1 mutations.
  • To inform clinical practice regarding diagnosis and treatment strategies.

Main Methods:

  • Comprehensive literature review.
  • Inclusion of author's laboratory and collaborators' research.
  • Analysis of data from St. Louis Children's Hospital Lung Transplant Database.

Main Results:

  • Disorders present acutely in neonates (SFTPB, ABCA3, NKX2.1) or chronically in infants/children (SFTPC, ABCA3, NKX2.1).
  • Diagnosis confirmed by gene sequencing; lung biopsy with electron microscopy aids evaluation.
  • Acute neonatal forms have limited treatment (lung transplant/compassionate care); chronic forms require individualized supportive care.

Conclusions:

  • Inherited surfactant metabolism disorders are rare but crucial models for understanding pediatric respiratory diseases.
  • These conditions highlight the complex mechanisms underlying neonatal and childhood lung dysfunction.
  • Further research into these genetic disorders can improve diagnostic and therapeutic approaches.
Abstract

More Related Videos

Surfactant Depletion Combined with Injurious Ventilation Results in a Reproducible Model of the Acute Respiratory Distress Syndrome (ARDS)06:22

Surfactant Depletion Combined with Injurious Ventilation Results in a Reproducible Model of the Acute Respiratory Distress Syndrome (ARDS)

Published on: April 7, 2021

Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus06:15

Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus

Published on: March 6, 2019

Related Concept Videos

Breathing01:05

Breathing

The process of breathing, inhaling and exhaling, involves the coordinated movement of the chest wall, the lungs, and the muscles that move them. Two muscle groups with important roles in breathing are the diaphragm, located directly below the lungs, and the intercostal muscles, which lie between the ribs. When the diaphragm contracts, it moves downward, increasing the volume of the thoracic cavity and creating more room for the lungs to expand. When the intercostal muscles contract, the ribs...
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic sinusitis...
Acute Respiratory Failure-V01:29

Acute Respiratory Failure-V

The treatment for acute respiratory failure varies based on factors like the underlying cause, overall health, and severity. A collaborative healthcare team is essential for early detection, often through arterial blood gas analysis. Identifying the cause is the primary goal, with treatment strategies adjusted for ventilation/perfusion (V/Q) mismatch, shunting, or diffusion impairment.
Ensure that patients are monitored continuously for their response to therapy, including changes in...
Chronic Obstructive Pulmonary Disease-V: Nursing Management01:30

Chronic Obstructive Pulmonary Disease-V: Nursing Management

Nursing management of Chronic Obstructive Pulmonary Disease (COPD) is crucial for providing thorough care and support to patients. Nurses play an integral role in this process through detailed assessment, careful planning, targeted interventions, and ongoing evaluation. Here's an overview of the critical steps in nursing management for COPD.
Assessment
Asthma-IV: Nursing Management01:30

Asthma-IV: Nursing Management

The nursing management of asthma is a comprehensive approach that relies heavily on the expertise and dedication of healthcare professionals. It involves thorough assessment, accurate diagnosis, strategic planning, effective implementation, and diligent evaluation. By meticulously following this step-by-step process, healthcare professionals play a crucial role in providing the best possible care and treatment for patients with asthma, enhancing their overall health and well-being.
First, in...
Acute Respiratory Failure-III01:30

Acute Respiratory Failure-III

Hypercapnic respiratory failure, also known as Type 2 or ventilatory respiratory failure, is a severe condition characterized by the body's inability to effectively remove carbon dioxide (CO2) from the bloodstream. It leads to an arterial CO2 pressure (PaCO2) exceeding 45 mmHg and a blood pH above 7.35. This situation indicates that the body's ventilatory demand, or the ventilation needed to maintain normal PaCO2 levels, surpasses its supply or the maximum gas flow achievable without causing...