Improvement of SLC29A3 spectrum disorder-related sensorineural hearing loss after initiation of IL-6 inhibitor

Lauren M. Gunderman, Taher Valika, Hallie Carol, Amer Khojah*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Tocilizumab is reported to reduce systemic inflammation in individuals with SLC29A3 spectrum disorder, but its effect on hearing loss has not been described. The authors present a boy toddler with a history of prematurity, dysphagia, hypersplenism, hyperpigmentation, short height and hearing loss who was referred to the immunology clinic. He initially presented shortly after birth with abnormal hearing screens followed by positive urine test for cytomegalovirus. However, the infection was determined to be postnatally acquired and hearing loss most likely from genetic causes given a family history of hearing loss and consanguinity. A pathogenic variant in SLC29A3 was found on whole-exome sequencing and given concern for SLC29A3 spectrum disorder, steroids were started. Following concerns for development of side effects with chronic steroid use, he was switched to interleukin 6 inhibitor therapy. The patient's inflammatory markers decreased on tocilizumab, and his sensorineural hearing loss was notable for improvement and stabilisation on therapy.

Original languageEnglish (US)
Article numbere249191
JournalBMJ case reports
Issue number6
StatePublished - Jun 1 2022


  • Biological agents
  • Congenital disorders
  • Drugs: musculoskeletal and joint diseases
  • Paediatrics (drugs and medicines)

ASJC Scopus subject areas

  • Medicine(all)


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