Sarcoidosis
Sarcoidosis is a multi-systemic non-necrotizing granulomatous disease
which can present with hilar lymphadenopathy, pulmonary infiltration and
ocular and cutaneous lesions [126]. Patients can present with
involvement of one system or multi-systemic disease. The diagnosis is
made when there is pathologic evidence of noncaseating granulomas in
affected tissue and other causes of granulomatous disease have been
excluded. CVID and IEIs should be evaluated for in a pediatric patient
presenting with sarcoidosis. Elevated ACE levels may support the
diagnosis, but this is not necessary for diagnosis. While the incidence
of sarcoidosis is unknown in the pediatric population, it is considered
to be rare – a Danish case series of children > 15 years
reported an incidence of 0.22 to 0.27 per 100,000 children per year
[127]. Radiographic findings described in pediatric sarcoidosis
include bilateral hilar lymphadenopathy with and without pulmonary
infiltrates, and nodules with ground glass opacities, and pleural and
interlobular septal thickening [128-130]. Reported PFT alterations
include hypoxemia, reduced vital capacity, decreased DLCO, and decreased
dynamic lung compliance [128, 129].
Decisions around treatment of pulmonary sarcoidosis in adults are
challenging, with no consensus around who should receive treatment,
given that disease can stabilize or resolve without therapy. These
decisions are more complicated still in the pediatric population, with
no studies around which patients to treat and optimal length of
treatment [129]. Corticosteroids, either daily oral steroids (0.5 to
2 mg/kg/day) or monthly IV pulse steroids are reported as the most-used
treatment [128, 129]. We recommend treatment of sarcoidosis in
pediatric patients with moderate to severe reduction in pulmonary
function, progressive decline in lung function, significant or worsening
radiographic disease, persistent or worsening symptoms, exercise
desaturation, and/or multisystemic involvement.