Interstitial lung disease and neurodegeneration in FINCA syndrome: new knowledge changes old judgments

FINCA (Fibrosis, Neurodegeneration, Cerebral Angiomatosis) syndrome is a new genetic multiorgan disease caused by mutation in NHLRC2 (NHL repeat-containing protein 2). Disease manifests at an early age interstitial lung disease, neurodegenerative disorders, hemolytic anemia, gastrointestinal liver dysfunction and other changes. The was first described 2018 three children who died before the of two. Studies recent years have significantly expanded range clinical symptoms syndrome, also showed great variability severity symptomes, especially respiratory lesions. Taking into account neurological problems all patients, should be included sequencing panels diseases (neurodegenerative, neurodevelopmental epilepsy). Recurrent infections episodic diarrhea, as well hypogammaglobulinemia most patients require study role functioning immune system. No conflict interests declared authors.