Autoinflammatory & rare systemic diseases
Phenotypic and genotypic characterization of Chinese adult patients with NLRP3-associated autoinflammatory disease with hearing loss
Authors' conclusion
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.
Study context
- Population
- Chinese adult patients with NLRP3-AID, Peking Union Medical College Hospital, July 2015–March 2023
- Participants
- 21 patients
- Outcome
- Phenotypic and genotypic features of Chinese adult NLRP3-AID patients with hearing loss
Methodological detailssingle-centre, whole exome sequencing, otorhinolaryngologic assessments
- Single-centre
- Whole exome sequencing
- Otorhinolaryngologic assessments
Main finding
As reported in the abstract
Hearing loss
Patients with hearing loss
13 of 21
61.90%
Observational data: associations, not effects.
Further findings
Treatment with TNF-α inhibitors
- TNF-α inhibitors confirmed by audiological evaluations to improve or reverse hearing loss
Original publication
Phenotypic and genotypic characterization of Chinese adult patients with NLRP3-associated autoinflammatory disease with hearing loss. Rheumatology (Oxford). Published 1 September 2023. doi:10.
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