TY - JOUR
T1 - Improvement of SLC29A3 spectrum disorder-related sensorineural hearing loss after initiation of IL-6 inhibitor
AU - Gunderman, Lauren M.
AU - Valika, Taher
AU - Carol, Hallie
AU - Khojah, Amer
N1 - Funding Information:
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.
Publisher Copyright:
© 2022 BMJ Publishing Group. All rights reserved.
PY - 2022/6/1
Y1 - 2022/6/1
N2 - 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.
AB - 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.
KW - Biological agents
KW - Congenital disorders
KW - Drugs: musculoskeletal and joint diseases
KW - Paediatrics (drugs and medicines)
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U2 - 10.1136/bcr-2022-249191
DO - 10.1136/bcr-2022-249191
M3 - Article
C2 - 35732371
AN - SCOPUS:85132635556
SN - 1757-790X
VL - 15
JO - BMJ Case Reports
JF - BMJ Case Reports
IS - 6
M1 - e249191
ER -