Outcome of Cochlear Implantation in NLRP3-related Autoinflammatory Inner Ear Disorders.

OBJECTIVE

Hearing loss is a highly penetrant phenotype in NLRP3 (Nod-Like-Receptor-Pyrin containing 3) gene-related autoinflammatory disorders. A recent study revealed potential medical treatment of hearing loss with anakinra (anti-interleukin 1 receptor antagonist) in selected cases. However, for severely aggravated hearing loss not responsive to anakinra, cochlear implantation (CI) would be the last resort for hearing rehabilitation. Outcome of CI is not clearly elucidated yet in this emerging type of hearing loss related to NLRP3-related autoinflammatory disorders, which has a systemic nature and ubiquitous distribution of resident macrophages involving the spiral ganglion neuron and the cochlear nerve. Here, we report the successful outcome of CI in NLRP3-related autoinflammatory disorder.

PATIENTS

Three subjects representing each type of NLRP3-related autoinflammatory disorder: chronic infantile, neurological, cutaneous, and articular syndrome; Muckle-Wells syndrome; and DFNA34, who underwent CI for auditory rehabilitation, were recruited.

INTERVENTIONS

Phenotypes as well as genotypes were reviewed in the subjects.

MAIN OUTCOME MEASURES

Audiologic performances before/after CI over time were evaluated.

RESULTS

All three subjects showed excellent audiological outcomes with rapid improvement of speech perception test result reaching plateau at 3 months after CI, although distribution of the disease predicted poor outcome based on theoretical analysis.

CONCLUSIONS

This is the first report to present outcome of CI among subjects with a confirmed NLRP3 genetic etiology and resultant systemic inflammation, and suggests that CI is a viable treatment option in this disease entity.