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West Ashley Library
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Wando Mount Pleasant Library
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Phenotypic and genotypic characterization of Chinese adult patients with NLRP3-associated autoinflammatory disease with hearing loss.
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- Author(s): Wu, Bingxuan; Luo, Yi; Wu, Di; Wang, Yi; Shen, Min
- Source:
Rheumatology; Jun2024, Vol. 63 Issue 6, p1690-1698, 9p- Subject Terms:
VESTIBULAR apparatus; ANTI-inflammatory agents; RESEARCH funding; ACADEMIC medical centers; RARE diseases; FATIGUE (Physiology); SENSORINEURAL hearing loss; FISHER exact test; AUTOINFLAMMATORY diseases; RETROSPECTIVE studies; AUDIOMETRY; DESCRIPTIVE statistics; FAMILY history (Medicine); LONGITUDINAL method; HEARING disorders; GENETIC mutation; DELAYED diagnosis; EARLY diagnosis; PHENOTYPES; GENOTYPES; SIGNAL peptides; SEQUENCE analysis; INTERLEUKINS; CHEMICAL inhibitors - Source:
- Additional Information
- Subject Terms:
- Abstract: Objectives Nucleotide-binding oligomerization domain-like receptor family, pyrin domain containing 3-associated autoinflammatory disease (NLRP3 -AID) is a rare autosomal dominant systemic autoinflammatory disease. We aimed to summarize the phenotypic and genotypic features of Chinese adult NLRP3 -AID patients with hearing loss. Methods A retrospective cohort study of twenty-one adult patients with NLRP3 -AID was conducted in Peking Union Medical College Hospital between July 2015 and March 2023. All patients underwent whole exome sequencing and otorhinolaryngologic assessments. Clinical features and therapeutic data were collected and analysed. Results We found that 13/21 (61.90%) of patients had hearing loss with high-frequency impairment in the majority, and most patients presented with vestibular dysfunction as a new finding. The NLRP3 -AID patients with early-onset, cold or stress triggered episodes, red eyes, fatigue, hypopsia and mutations located in the NACHT domain of the NLRP3 protein were more likely to suffer from hearing loss, especially sensorineural hearing loss, perhaps as a result of pathogenic variants of high penetrance. By a series of audiological evaluations, TNF-α inhibitors were confirmed to improve or reverse hearing loss. Conclusions We reported the first cohort of Chinese adult NLRP3 -AID patients with hearing loss and characterized vestibular dysfunction, highlighted the necessity for attention to high-frequency hearing and provided potential alternative treatment. [ABSTRACT FROM AUTHOR]
- Abstract: Copyright of Rheumatology is the property of Oxford University Press / USA and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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