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

4 Scopus citations

Abstract

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
Volume15
Issue number6
DOIs
StatePublished - Jun 1 2022

Funding

Our patient was diagnosed with SCL29A3 spectrum disorder from genetic testing, ordered in the setting of hearing loss and a family history of Rosai-Dorfman disease, consanguinity and Arab descent. The diagnosis was supported by cutaneous hyperpigmentation, hepatosplenomegaly, hypotonia, low height and systemic inflammation. The SCL29A3 gene, as previously introduced, encodes the hENT3. The hENT3, which is highly expressed in macrophages, assists in the transportation of lysosomes. Variants in this gene lead to defective apoptotic cell clearance, build-up of macrophages and persistent inflammation as seen in SCL29A3 spectrum disorder such as pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus associated with systemic inflammation and cardiomyopathy (PHID), H syndrome, familial Rosai-Dorfman disease and histiocytosis-lymphadenopathy plus syndrome.

Keywords

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

ASJC Scopus subject areas

  • General Medicine

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