Related Experiment Video

Updated: Apr 26, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

11.9K

Hereditary interstitial lung diseases manifesting in early childhood in Japan

Takuma Akimoto1, Kazutoshi Cho1, Itaru Hayasaka1

  • 1Maternity and Perinatal Care Center, Hokkaido University Hospital, Sapporo, Japan.

Pediatric Research
|August 9, 2014
PubMed

Insights

Genetic variations in Japanese infants with interstitial lung diseases (ILD) were investigated. Surfactant protein-C gene (SFTPC) abnormalities were most common, while surfactant protein-B (SP-B) deficiency was rare in these hereditary ILD cases.

Area of Science:

  • Pediatric Pulmonology
  • Medical Genetics
  • Neonatology

Background:

  • Interstitial lung diseases (ILD) in infants are challenging to diagnose.
  • Genetic factors contributing to ILD in Japanese infants remain understudied.
  • Unexplained lung dysfunction in infants necessitates etiological investigation.

Purpose of the Study:

  • To identify genetic variations associated with ILD in Japanese infants.
  • To determine the prevalence of specific gene mutations in different ILD subtypes.
  • To elucidate the role of surfactant protein genes in infantile ILD.

Main Methods:

  • Genetic analysis of SFTPC, ABCA3, SFTPB, and FOXF1 genes in 43 infants with unexplained lung dysfunction.
  • Western blotting for surfactant protein-B (SP-B).
  • Assessment of pSTAT-5 signaling pathway.

Main Results:

  • Nine infants were diagnosed with ILD (interstitial pneumonitis, hereditary pulmonary alveolar proteinosis (hPAP), alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV)).
  • Genetic variations were found in 67% of infants with ILD, predominantly involving SFTPC and ABCA3 genes in hPAP and interstitial pneumonitis.
  • No SFTPB mutations or pSTAT-5 defects were observed; adequate SP-B protein levels were detected.

Conclusions:

  • SFTPC gene abnormalities are the most prevalent genetic cause of hereditary ILD in Japanese infants.
  • SP-B deficiency is uncommon in this population.
  • Genetic testing is crucial for diagnosing hereditary ILD in infants with unexplained lung dysfunction.
Abstract

More Related Videos

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

53.3K
Author Spotlight: Exploring the Role of Inflammation in the Co-occurrence of Primary Sjogren's Syndrome and Lung Adenocarcinoma10:21

Author Spotlight: Exploring the Role of Inflammation in the Co-occurrence of Primary Sjogren's Syndrome and Lung Adenocarcinoma

Published on: September 20, 2024

913

Related Concept Videos

Other Pulmonary Disorders01:17

Other Pulmonary Disorders

Respiratory disorders encompass a range of conditions with varying levels of severity. Asthma, marked by chronic airway inflammation and hypersensitivity, is one such condition. It can lead to airway obstruction due to factors like bronchial spasms, mucosal edema, increased mucus secretion, or epithelial damage. Asthma triggers are diverse, ranging from allergens to emotional upset, and treatment focuses on both immediate relief through bronchodilators and long-term inflammation suppression.
1.8K
Pulmonary Hypertension: Classification and Pathogenesis01:30

Pulmonary Hypertension: Classification and Pathogenesis

Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
897
Chronic Obstructive Pulmonary Disease I: Introduction01:23

Chronic Obstructive Pulmonary Disease I: Introduction

Chronic obstructive pulmonary disease is a common, preventable, and treatable respiratory disorder characterized by persistent symptoms and progressive airflow limitation. This limitation results from a combination of small-airway disease (obstructive bronchiolitis) and parenchymal destruction (emphysema), both driven by chronic inflammation from exposure to harmful particles or gases.The disease includes two main pathological entities: emphysema, marked by destruction of alveolar walls and...
23
Chronic Obstructive Pulmonary Disease-II: Pathophysiology01:20

Chronic Obstructive Pulmonary Disease-II: Pathophysiology

Chronic Obstructive Pulmonary Disease (COPD) pathophysiology is intricate and multifaceted, involving a complex interplay of physiological processes. Understanding these mechanisms is crucial for effectively managing and treating COPD. Here is an in-depth look at the critical elements in the pathophysiology of COPD:
Chronic Inflammation
4.9K
Chronic Obstructive Pulmonary Disease-I: Introduction01:20

Chronic Obstructive Pulmonary Disease-I: Introduction

Chronic Obstructive Pulmonary Disease (COPD) is a long-lasting respiratory condition requiring continuous attention and care. It is a progressive lung disease that leads to breathing challenges due to airflow obstruction. It manifests as persistent respiratory symptoms and restricted airflow resulting from abnormalities in the airways and alveoli, usually due to long-term exposure to harmful particles or gases. COPD mainly consists of two primary conditions: emphysema and chronic bronchitis.
4.0K
Chronic Obstructive Pulmonary Disease01:24

Chronic Obstructive Pulmonary Disease

COPD is defined as a heterogeneous lung condition marked by persistent respiratory symptoms such as dyspnea, cough, and sputum production, caused by abnormalities in the airways that cause airflow obstruction.
Smoking is a primary risk factor for COPD, with over 80% of patients having a history of it. Patients typically experience progressive dyspnea or labored breathing, frequent coughing, and recurrent pulmonary infections. Many eventually succumb to respiratory failure, characterized by...
3.0K