Familial pulmonary fibrosis: a world without frontiers

Borie, Raphaël; Crestani, Bruno

doi:10.1590/1806-3713/e20190303

Cited by 4 publications

(1 citation statement)

References 30 publications

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“…Finally, some HRCT patterns remain unclassifiable [21]. Mutations in genes like the surfactant proteins C and A genes (SFTPC and SFTPA), the ABCA3 gene that encodes for an intracellular SFTPC carrier, the TERT and TERC genes encoding for the telomerase complex and the MUC5B polymorphism (rs35705950) are responsible for about 20% of all FPF cases; while many other probable genetic mutations are still unknown [22]. These mutations have also been implicated in other diseases.…”

Section: Discussionmentioning

confidence: 99%

Idiopathic Pulmonary Fibrosis in A Young Patient with Strong Family Background

Nehme¹

2022

IJOPRS

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Background: Idiopathic pulmonary fibrosis (IPF) is the most common form of interstitial lung disease. It's a chronic, progressive and often fatal disease. The etiology, pathophysiology and predisposing factors of IPF are still not fully understood. Genetic mutations leading to the disease are sometimes among the underlying predisposing factors leading to the entity known as familial pulmonary fibrosis (FPF). FPF is a rare entity and often overlooked. Not much data is available on the subject in the literature. For that reason, it's important to increase awareness about this disease. Case presentation:In the following article, we report the case of a young patient presenting with a fibrosing lung disease that turns out being a familial pulmonary fibrosis. This case report goes over the challenges faced with the diagnosis, the approach for treatment and the genetic counseling in FPF. Conclusion:FPF is a rare disease with potential severe consequences for the patient. A high level of suspicions is required when making the diagnosis and potential genetic testing of family members might be required.

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Section: Discussionmentioning

confidence: 99%