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Sarcoid Uveitis in Children
Justine R Smith1, Manabu Mochizuki2
1College of Medicine & Public Health, Flinders University, Adelaide, Australia.
Insights
Pediatric sarcoidosis, including early-onset genetic forms and adult-type presentations, requires tailored management. Treatment often involves immunomodulatory therapies like methotrexate and adalimumab, with long-term follow-up crucial.
Area of Science:
- Ophthalmology
- Genetics
- Immunology
Background:
- Sarcoidosis is a multi-system granulomatous disease frequently involving uveitis.
- While common in adults, pediatric sarcoidosis presents distinct forms with varied etiologies.
- Early-onset sarcoidosis (age ≤5 years) is genetic (NOD2 mutation), unlike adult-type sarcoidosis (age 8-15 years) linked to environmental factors.
Purpose of the Study:
- To summarize the distinct clinical presentations of pediatric sarcoidosis.
- To outline current management strategies for pediatric sarcoidosis and uveitis.
- To emphasize the need for long-term follow-up in affected children.
Main Methods:
- Literature review on pediatric sarcoidosis and uveitis.
- Analysis of clinical presentations and genetic factors.
- Summary of treatment approaches for non-infectious pediatric uveitis.
Main Results:
- Two pediatric sarcoidosis types identified: early-onset genetic and later-onset environmental.
- Management aligns with pediatric non-infectious uveitis protocols.
- Methotrexate and adalimumab are common systemic immunomodulatory treatments.
Conclusions:
- Pediatric sarcoidosis has distinct genetic and environmental forms.
- Current treatment relies on established uveitis management, including immunomodulators.
- Long-term monitoring is essential as pediatric sarcoidosis can persist into adulthood.
Abstract:
Sarcoidosis is a multi-system granulomatous disease that often presents with uveitis. Although sarcoidosis and sarcoid uveitis typically occur in adulthood, children also may be affected. There are two distinct clinical presentations of the pediatric disease, associated with younger and older age groups, and having different causations. "Early-onset sarcoidosis", beginning at age 5 years or less, is an autosomal dominant genetic disease, caused by a mutation in the NOD2 gene. It is also known as sporadic Blau syndrome or Jabs syndrome. "Adult-type sarcoidosis", usually beginning between the ages of 8 and 15 years, is believed to represent an excessive response to an environmental antigen. There is limited literature on the management of pediatric sarcoidosis, and treatment follows an approach applied to other forms of pediatric non-infectious uveitis. When systemic immunomodulatory therapy is indicated, methotrexate and/or adalimumab are often employed. The condition may persist into adulthood, and thus long-term follow-up is indicated.
