Case Report: Clinical manifestations and treatment of two Chinese patients with FINCA syndrome carrying a novel variant of NHLRC2

• Main Authors: Yuemei Liu (Author), Hongling Wang (Author), Yu Tang (Author), Lei Zhang (Author), Yanyan Su (Author), Yanqion Wang (Author), Shasha Xu (Author), Shiyue Mei (Author), Chunyang Jia (Author), Yuelin Shen (Author), Xiaolei Tang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome is an autosomal recessive genetic disorder caused by mutations in NHL-repeat-containing protein 2 (NHLRC2) gene. This case report describes two Chinese siblings with FINCA syndrome carrying a novel frameshift variant, c.1610dupT (p.L537Ffs*17), of NHLRC2 gene. They shared similar symptoms of interstitial lung disease (ILD) and neurodegeneration, with early onset during infancy, and shared similar chest CT findings of bilateral ground-glass opacities and consolidations. The elder brother died of infantile respiratory failure, while the younger brother showed improvement in respiratory symptoms, chest CT, and Krebs von den Lungen-6 levels after long-term systemic glucocorticoid therapy, indicating that anti-inflammatory treatment may be beneficial in the treatment of ILD caused by FINCA syndrome.

Item Description

2296-2360
10.3389/fped.2024.1402545