Familial Interstitial Pulmonary Fibrosis: A Large Family with Atypical Clinical Features

Familial Interstitial Pulmonary Fibrosis.

In 1944 Hamman and Rich first described a disease that caused an acute diffuse interstitial fibrosis of the lungs, and which resulted in the death of four patients within six months of the onset of symptoms. Since then countless further cases have been reported in the literature, and our knowledge of the subject has advanced. It is recognized that the interstitial fibrotic process may be locali...

Familial Incidence of Diffuse Interstitial Pulmonary Fibrosis.

A Patient with Interstitial 5q21 Deletion, Familial Adenomatous Polyposis, Dysmorphic Features, and Profound Neurologic Dysfunction

     Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC) gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also...

REPORT OF FOUR CASES OF FAMILIAL IDIOPATHIC PULMONARY FIBROSIS

A 25 year old male and his 46 year old aunt presented with shortness of breath and a dramatic response to steroids. The other two patients are sisters with more advanced disease. One of these responded partially to steroids, while the other died within 4 months of treatment. The genetic basis and pathogenesis are discussed.

A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features

UNLABELLED BACKGROUND Idiopathic pulmonary fibrosis (IPF) is an adult-onset Idiopathic Interstitial Pneumonia (IIP) usually diagnosed between age 50 to 70 years. Individuals with Familial Pulmonary Fibrosis (FPF) have at least one affected first or second-degree relative and account for 0.5-20% of cases. METHODS We ascertained and collected DNA samples from a large population-based cohort ...