Related Experiment Video

Updated: May 8, 2026

Phenotyping Mouse Pulmonary Function In Vivo with the Lung Diffusing Capacity
07:13

Phenotyping Mouse Pulmonary Function In Vivo with the Lung Diffusing Capacity

Published on: January 6, 2015

Familial interstitial pneumonia in an adolescent boy with surfactant protein C gene (Y104H) mutation

N Kuse1, S Abe, H Hayashi

  • 1Internal Medicine, Department of Pulmonary Medicine/Infection and Oncology, Nippon Medical School, Tokyo, Japan.

Sarcoidosis, Vasculitis, and Diffuse Lung Diseases : Official Journal of WASOG
|September 6, 2013
PubMed

Insights

Familial interstitial pneumonia can be linked to surfactant protein C (SFTPC) gene mutations. This case study highlights a rare SFTPC mutation in an adolescent, expanding the understanding of this genetic lung disease.

Area of Science:

  • Pulmonary Medicine
  • Genetics
  • Rare Diseases

Background:

  • Familial interstitial pneumonia (FIP) is a rare lung disease with a genetic component.
  • Mutations in the surfactant protein C (SFTPC) gene have been implicated in some FIP cases.
  • Idiopathic interstitial pneumonia (IIP) affects multiple generations within families.

Observation:

  • A case of FIP in an adolescent male with a family history of IIP is presented.
  • The patient was asymptomatic but had an abnormal chest shadow detected during a medical check-up.
  • Surgical lung biopsy revealed non-specific interstitial pneumonia (NSIP) with findings similar to his father's autopsy.

Findings:

  • Genomic DNA sequencing identified the Thy104His (Y104H) mutation in the SFTPC gene.
  • The patient was diagnosed with SFTPC mutation-associated familial interstitial pneumonia.
  • No clinical, physiological, or radiological progression was observed over four years post-diagnosis.

Implications:

  • This case expands the known spectrum of SFTPC mutations associated with interstitial pneumonia.
  • Understanding the relationship between clinical presentation and specific mutation sites is crucial.
  • Further research may elucidate the full range of SFTPC-related lung diseases and their management.

More Related Videos

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study08:00

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study

Published on: April 11, 2018

Development of a Neonatal Piglet Acute Lung Injury Model Recreating the Early Environment of Preterm Infant Lungs08:58

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

Published on: October 31, 2025

Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
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...
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...
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
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...
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.