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