Features of sarcoidosis in children (a series of clinical cases)
ORIGINAL PAPERS
Abstract
Introduction.Sarcoidosis in children is a rare and poorly studied pathology, and therefore there is a need for a detailed study of the disease.The aimof the work was to demonstrate clinical observations and compare them with literature data.Materials and methods.A retrospective analysis of the medical records of patients with histologically verified pulmonary sarcoidosis for 2014–2025 was carried out. The following diagnostic methods were used: computed tomography of the chest organs (Chest CT) ultrasound examination (ultrasound) examination of the function of external respiration (spirometry, pulse oscillometry, bodyplethysmography, diffusivity of the lungs); endoscopic examination methods (bronchoscopy, transbronchial forceps biopsy of the lymph node under ultrasound navigation, biopsy of the bronchial mucosa).Results.Three clinical observations are presented in detail in this article. Over the past 10 years, we have identified 5 children with sarcoidosis. Clinical example 1: a 16-year-old girl with hereditary sarcoidosis. Complaints of weight loss, fatigue. During routine fluorography (FLG) in 2023, lung root enlargement was performed; с omputed tomography (CT) shows an increase in bronchopulmonary lymph nodes (LU); transesophageal biopsy of the LU under ultrasound navigation revealed chronic granulomatous inflammation. After 4 months, shortness of breath and neck pain appeared. Systemic glucocorticosteroid (GCS) therapy with a positive effect has been prescribed. Clinical example 2: a 17-year-old boy with no medical history. With PH in December 2024, focal changes in the lungs and an increase in the intrathoracic LU; CT scan shows focal changes in the lungs, mediastinal lymphadenopathy; a transbronchial biopsy under ultrasound navigation is a chronic granulomatous inflammation. Systemic GCS has been initiated. Clinical example 3: a 16-year-old girl with no medical history. Complaints of shortness of breath, weight loss, amenorrhea. With planned PH, there is an increase in the pulmonary pattern, rounded formations in the lung parenchyma; CT scans show interstitial changes in the lungs and an increase in the intrathoracic veins; bronchial brush biopsy shows epithelioid cell granulomatous inflammation. Vascular therapy was prescribed, stable condition during the year.Conclusion.Clinical examples demonstrate the features of the course of sarcoidosis in children (family history of the disease, asymptomatic period, weight loss, shortness of breath, lymphadenopathy). Due to the early onset of systemic GCS, there is a positive effect with sarcoidosis regression.
References
1. Саркоидоз. А.А. Визель, ред. М.: Атмосфера; 2010. Sarcoidosis. A.A. Wiesel, ed. Moscow: Atmosphere; 2010. (In Russian).
2. Визель А.А., Гурылева М.Э. Саркоидоз у детей. Педиатрия им. Г.Н. Сперанского. 2004;(2):62–67. Vizel A.A., Guryileva M.E. Sarcoidosis in children. Pediatria n.a. G.N. Speransky. 2004;83(2):62–67. (In Russian).
3. Гармаш Ю.Ю., Колосовская В.П. Выявление, заболеваемость, распространенность саркоидоза среди населения Москвы. Туберкулез сегодня: материалы VII Российского съезда фтизиатров. М.: БИНОМ; 2003. 342 с. Garmash Yu.Yu., Kolosovskaya V.P. Detection, incidence, and prevalence of sarcoidosis among the population of Moscow. Tuberculosis today: Proceedings of the VII Russian Congress of Phthisiologists. Moscow: BINOM; 2003. 342 p. (In Russian).
4. Русаков Н.В., Мухин Н.А., Брико Н.И. и др. Особенности распространения саркоидоза в условиях Москвы. Гигиена и санитария. 2012;(4):16–18. Rusakov N.V., Mukhin N.A., Briko N.I. et al. Features of the spread of sarcoidosis in Moscow. Hygiene and Sanitation. 2012;(4):16–18. (In Russian).
5. Fink C.W., Cimaz R. Early onset sarcoidosis: not a benign disease. J Rheumatol. 2007;24(1):174–177.
6. Chauveau S., Jeny F., Montagne M.E. et al. Child-adult transition in sarcoidosis. J Clin Med. 2020;9(7):2097. https://doi.org/10.3390/jcm9072097.
7. Terwiel M., van Moorsel C.H.M. Clinical epidemiology of familial sarcoidosis: A systematic literature review. Respir Med. 2019:149:36–41. https://doi.org/10.1016/j.rmed.2018.11.022.
8. Визель А.А., Визель И.Ю. Саркоидоз и интерфероны: звенья патогенеза и ятрогения. Практическая пульмонология. 2017;(1):46–50. Vizel A.A., Vizel I.Yu. Sarcoidosis and interferons: pathogenesis and iatrogeny. Practical pulmonology. 2017;(1):46–50. (In Russian).
9. Визель И.Ю., Шмелев Е.И., Визель А.А. и др. Сравнение вновь выявленных больных саркоидозом молодого и старшего возраста. РМЖ. 2018;10(1):16–20. Vizel I.Yu., Shmelev E.I., Vizel A.A. et al. Comparison of newly diagnosed young and older patients with sarcoidosis. RMJ. 2018;10(1):16–20. (In Russian).
10. Vorselaars A.D.M., van Moorsel C.H.M., Zanen P. et al. ACE and s IL-2R correlate with lung function improvement in sarcoidosis during methotrexate therapy. Respir Med. 2015;109(2):279–285. https://doi.org/10.1016/j.rmed.2014.11.009.
11. White E.S., Lynch J.P. Current and emerging strategies for the management of sarcoidosis. Expert Opin Pharmacother. 2007;8(9):1293–1311. https://doi.org/10.1517/14656566.8.9.1293.
12. Dubaniewicz A. “Danger theory” as a common mechanism of sarcoidosis induction by infectious and non- infectious factors — a role of environmental factors and autoimmunity. Pol Merkur Lekarski. 2018;44(261):97–100.
13. Rose C.D., Doyle T.M., Mc Ilvain-Simpson G. et al. Blau syndrome mutation of CARD12/NOD2 in sporadic early onset granulomatous arthritis. J Rheumatol. 2005;32(2):373–375. https://doi.org/10.1016/j.ajo.2006.06.064.
14. Ungprasert P., Matteson E.L. Neurosarcoidosis. Rheum Dis Clin North Am. 2017;43(4):593–606. https://doi.org/10.1016/j.rdc.2017.06.008.
15. Fauroux B., Clement A. Paediatric sarcoidosis. Paediatr Resir Rev. 2005;6(2):128–133. https://doi.org/10.1016/j.prrv.2005.03.007.
16. Gorkem S.B., Köse S., Lee E.Y. et al. Thoracic MRI evaluation of sarcoidosis in children. Pediatr Pulmonol. 2017;52:494–499. https://doi.org/10.1002/ppul.23614.
17. Lynch J.P., Ma Y.L., Koss M.N. et al. Pulmonary sarcoidosis. Semin Respir Crit Care Med. 2007;28(1):53–74. https://doi.org/10.1055/s-2007-970333.
18. Fink C.W., Cimaz R. Early onset sarcoidosis: not a benign disease. J Rheumatol. 2007;24(1):174–177.
19. Zhao M.M., Du S.S., Li Q.H. et al. High throughput 16Sr RNA gene sequencing reveals the correlation between Propionibacterium acnes and sarcoidosis. Respir Res. 2017;18(1):28. https://doi.org/10.1186/s12931-017-0515-z.
20. Nathan N., Marcelo P., Houdouin V. et al. Lung sarcoidosis in children: update on disease expression and management. Thorax. 2015;70(6):537–542. https://doi.org/10.1136/thoraxjnl-2015-206825.
21. Maleki A., Anesi S.D., Look-Why S. et al. Pediatric uveitis: a comprehensive review. Surv Ophthalmol. 2022;67(2):510–529. https://doi.org/10.1016/j.survophthal.2021.06.006.
22. Gedalia A., Shetty A.K., Ward K. The diagnostic value of MRI in children with sarcoidosis presenting with fever of unknown origin. J Pedatr Orthop. 2007;17:460–462.
23. Rao R., Dimitriades V.R., Weimer M. et al. Neurosarcoidosis in pediatric patients: a case report and review of isolated and systemic neurosarcoidosis. Pediatr Neurol. 2016;63:45–52. https://doi.org/10.1016/j.pediatrneurol.2016.05.018.
24. Lindsley C.B., Petty R.E. Overview and report on international registry of sarcoid arthritis in childhood. Curr Rheumatol Rep. 2000;2(4):343–348. https://doi.org/10.1007/s11926-000-0073-z.
25. Slamang W., Tinley C., Brice N.et al. Paediatric non-infectious uveitis in Cape Town, South Africa: a retrospective review of disease characteristics and outcomes on immunomodulating treatment. Pediatr Rheumatol Online J. 2021; 19(1):50. https://doi.org/10.1186/s12969-021-00537-x.
26. Rose C.D., Wouters C.H., Meiorin S. et al. Pediatric granulomatous arthritis: an international registry. Arthritis Rhem. 2006;54(10):3337–3344. https://doi.org/10.1002/art.22122.
27. Rosen Y. Pathology of sarcoidosis. Semin Respir Crit Care Med. 2007;28(1):36–52. https://doi.org/10.1055/s-2007-970332.
28. Van Dee L., Stehouwer M., van Bemmel T. et al. Systemic sarcoidosis associated with exposure to Borrelia burgdorferi in a 21-Year-Old Man. Eur J Case Rep Intern Med. 2018;5(10):000942. https://doi.org/10.12890/2018_000942.
29. Ruza I., Lucane Z. Serum and urinary calcium level in Latvian patients with sarcoidosis. Reumatologia. 2018;56(6): 377–381. https://doi.org/10.5114/reum.2018.80715.
30. Shetty A.K., Gedalia A. Sarcoidosis in children. Curr Probl Pediatr. 2000;30(5);149–176. https://doi.org/10.1067/mps.2000.105929.
31. Hafner R., Vogel P. Sarcoidosis of early onset. A challenge for the pediatric rheumatologist. Clin Exp Rheumatol. 2003;11(6):685–691.
32. Bénéteau-Burnat B., Baudin B., Morgant G., Baumann F.C., Giboudeau J. Serum angiotensin-converting enzyme in healthy and sarcoidotic children: comparison with the reference interval for adults. Clin Chem. 1990;36(2):344–346.
33. Moudgil A., Przygodzki R.M., Kher K.K. Successful steroid-sparing treatment of renal-limited sarcoidosis with mycophenolate mofetil. Pediatr Nephrol. 2006;21(2);281–285. https://doi.org/10.1007/s00467-005-2086-3.
34. Patterson K.C., Chen E.S. The pathogenesis of pulmonary sarcoidosis and implications for treatment. Chest. 2018;153(6):1432–1442. https://doi.org/10.1016/j.chest.2017.11.030.
35. Izbicki G., Chavko R., Banauch G. et al. World Trade Center “sarcoid-like” granulomatous pulmonary disease in New York City Fire Department rescue workers. Chest. 2007;131(5):1414–1423. https://doi.org 10.1378/chest.06-2114.
