Case Report: Clinical manifestations and treatment of two Chinese patients with FINCA syndrome carrying a novel variant of NHLRC2
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...
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Frontiers Media S.A.,
2024-09-01T00:00:00Z.
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| 042 | |a dc | ||
| 100 | 1 | 0 | |a Yuemei Liu |e author |
| 700 | 1 | 0 | |a Hongling Wang |e author |
| 700 | 1 | 0 | |a Yu Tang |e author |
| 700 | 1 | 0 | |a Lei Zhang |e author |
| 700 | 1 | 0 | |a Yanyan Su |e author |
| 700 | 1 | 0 | |a Yanqion Wang |e author |
| 700 | 1 | 0 | |a Shasha Xu |e author |
| 700 | 1 | 0 | |a Shiyue Mei |e author |
| 700 | 1 | 0 | |a Chunyang Jia |e author |
| 700 | 1 | 0 | |a Yuelin Shen |e author |
| 700 | 1 | 0 | |a Xiaolei Tang |e author |
| 245 | 0 | 0 | |a Case Report: Clinical manifestations and treatment of two Chinese patients with FINCA syndrome carrying a novel variant of NHLRC2 |
| 260 | |b Frontiers Media S.A., |c 2024-09-01T00:00:00Z. | ||
| 500 | |a 2296-2360 | ||
| 500 | |a 10.3389/fped.2024.1402545 | ||
| 520 | |a 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. | ||
| 546 | |a EN | ||
| 690 | |a NHLRC2 | ||
| 690 | |a interstitial lung disease | ||
| 690 | |a lung fibrosis | ||
| 690 | |a neurodegeneration | ||
| 690 | |a genetics | ||
| 690 | |a Pediatrics | ||
| 690 | |a RJ1-570 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Frontiers in Pediatrics, Vol 12 (2024) | |
| 787 | 0 | |n https://www.frontiersin.org/articles/10.3389/fped.2024.1402545/full | |
| 787 | 0 | |n https://doaj.org/toc/2296-2360 | |
| 856 | 4 | 1 | |u https://doaj.org/article/5cc9c9c1e11a42be8ef5fd87d5b2e2c7 |z Connect to this object online. |