Skip to main content
SpringerLink
Log in

Kollagenosen im Kindes- und Jugendalter

Connective tissue diseases in childhood and adolescence

  • Leitthema
  • Published:
Monatsschrift Kinderheilkunde Aims and scope Submit manuscript

Zusammenfassung

Kollagenosen sind systemische Autoimmunerkrankungen, die verschiedene Organe betreffen können. Die Krankheitsbilder umfassen den systemischen Lupus erythematodes, die Dermatomyositis, die systemische Sklerose, das Sjögren-Syndrom, „Overlap“-Syndrome und undifferenzierte Kollagenosen. Aufgrund ihrer Seltenheit und ihrer Schwere stellen Kollagenosen im Kindesalter besondere Herausforderungen an Diagnostik und Therapie.

Abstract

Connective tissue diseases (CTDs) are severe systemic autoimmune diseases which may affect multiple organs. The symptomatic picture includes systemic lupus erythematosus, dermatomyositis, systemic sclerosis, Sjögren’s syndrome, overlap syndromes and undifferentiated CTDs. Due to their rarity and severity CTDs in childhood pose major challenges concerning diagnostics and treatment.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

We’re sorry, something doesn't seem to be working properly.

Please try refreshing the page. If that doesn't work, please contact support so we can address the problem.

Abb. 1
Abb. 2
Abb. 3
Abb. 4

Abbreviations

ACR:

American College of Rheumatology

ADCC:

„Antibody-dependent cell-mediated cytotoxicity“

Ak:

Antikörper

ANA:

Antinukleärer Antikörper

AZA:

Azathioprin

BSG:

Blutkörperchensenkungsgeschwindigkeit

CANDLE:

„Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature“

CARRA:

Childhood Arthritis & Rheumatology Research Alliance

CDC:

„Complement-dependent cytotoxicity“

CK:

Kreatinkinase

CREST:

Calcinosis cutis, Raynaud-Phänomen, „esophageal dysmotility“ (ösophageale Dysmotilität), Sklerodaktylie und Teleangiektasie

CRP:

C-reaktives Protein

CSA:

Cyclosporin A

CYC:

Cyclophosphamid

DC:

Dendritische Zelle

DM:

Dermatomyositis

DMARD:

„Disease-modifying antirheumatic drug“

dsDNA:

Doppelstrang-DNA

GKJR:

Gesellschaft für Kinder- und Jugendrheumatologie

GOT:

Glutamat-Oxalacetat-Transaminase

HCQ:

Hydroxychloroquin

Ig:

Immunglobulin

IVIG:

i. v.-verabreichte Immunglobuline

IVMP:

i. v.-verabreichtes Methylprednisolon

JDM:

Juvenile Dermatomyositis

LDH:

Laktatdehydrogenase

LN:

Lupusnephritis

MALT:

„Mucosa associated lymphoid tissue“

MCTD:

„Mixed connective tissue disease“

MHC:

„Major histocompatibility complex“

MMF:

Mycophenolatmofetil

MTX:

Methotrexat

NET:

„Neutrophil extracellular trap“

NPSLE:

Neuropsychiatrischer systemischer Lupus erythematodes

PAH:

Pulmonalarterielle Hypertonie

PM:

Polymyositis

PRO-KIND:

Projekte zu Klassifikation, Überwachung und Therapie in der Kinderrheumatologie

RTX:

Rituximab

SAVI:

STING-associated vasculopathy with onset in infancy

Scl:

Sklerodermie

SHARE:

Single Hub and Access Point for Pediatric Rheumatology in Europe

SLE:

Systemischer Lupus erythematodes

SLICC:

Systemic Lupus International Collaborating Clinics

SS:

Sjögren-Syndrom

SSc:

Systemische Sklerose (dSSc: diffuse Form, lSSc limitierte Form)

vWF:

Von-Willebrand-Faktor

ZNS:

Zentralnervensystem

Literatur

  1. Klemperer P, Pollack AD, Baehr G (1984) Landmark article May 23, 1942: Diffuse collagen disease. Acute disseminated lupus erythematosus and diffuse scleroderma. By Paul Klemperer, Abou D. Pollack and George Baehr. JAMA 251(12:1593–1594

    Article  Google Scholar 

  2. Cervera R, Khamashta MA, Hughes GR (1990) ’Overlap’ syndromes. Ann Rheum Dis 49(11):947–948

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  3. LeRoy EC, Maricq HR, Kahaleh MB (1980) Undifferentiated connective tissue syndromes. Arthritis Rheum 23(3):341–343

    Article  PubMed  CAS  Google Scholar 

  4. Wagner N (2009) Kutane Symptome rheumatischer Erkrankungen im Kindesalter. Hautarzt 60(3):200–207

    Article  PubMed  CAS  Google Scholar 

  5. Pineles D, Valente A, Warren B, Peterson MG, Lehman TJ, Moorthy LN (2011) Worldwide incidence and prevalence of pediatric onset systemic lupus erythematosus. Lupus 20(11):1187–1192

    Article  PubMed  CAS  Google Scholar 

  6. Brunner HI, Gladman DD, Ibanez D, Urowitz MD, Silverman ED (2008) Difference in disease features between childhood-onset and adult-onset systemic lupus erythematosus. Arthritis Rheum 58(2):556–562

    Article  PubMed  Google Scholar 

  7. Feldman BM, Rider LG, Reed AM, Pachman LM (2008) Juvenile dermatomyositis and other idiopathic inflammatory myopathies of childhood. Lancet 371(9631):2201–2212

    Article  PubMed  Google Scholar 

  8. Mizuno Y, Hara T, Hatae K, Hirano T, Ueda K, Nakamura N, Mizoguchi Y (1989) Recurrent parotid gland enlargement as an initial manifestation of Sjogren syndrome in children. Eur J Pediatr 148(5):414–416

    Article  PubMed  CAS  Google Scholar 

  9. Mier RJ, Shishov M, Higgins GC, Rennebohm RM, Wortmann DW, Jerath R, Alhumoud E (2005) Pediatric-onset mixed connective tissue disease. Rheum Dis Clin North Am 31(3):483–496

    Article  PubMed  Google Scholar 

  10. McGonagle D, McDermott MF (2006) A proposed classification of the immunological diseases. PLoS Med 3(8):e297

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  11. Armstrong DL, Zidovetzki R, Alarcon-Riquelme ME, Tsao BP, Criswell LA, Kimberly RP, Harley JB, Sivils KL, Vyse TJ, Gaffney PM et al (2014) GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. Genes Immun 15(6):347–354

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  12. Hooks JJ, Moutsopoulos HM, Geis SA, Stahl NI, Decker JL, Notkins AL (1979) Immune interferon in the circulation of patients with autoimmune disease. N Engl J Med 301(1):5–8

    Article  PubMed  CAS  Google Scholar 

  13. Norton WL, Velayos E, Robison L (1970) Endothelial inclusions in dermatomyositis. Ann Rheum Dis 29(1):67–72

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  14. Bennett L, Palucka AK, Arce E, Cantrell V, Borvak J, Banchereau J, Pascual V (2003) Interferon and granulopoiesis signatures in systemic lupus erythematosus blood. J Exp Med 197(6):711–723

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  15. Walsh RJ, Kong SW, Yao Y, Jallal B, Kiener PA, Pinkus JL, Beggs AH, Amato AA, Greenberg SA (2007) Type I interferon-inducible gene expression in blood is present and reflects disease activity in dermatomyositis and polymyositis. Arthritis Rheum 56(11):3784–3792

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  16. Higgs BW, Liu Z, White B, Zhu W, White WI, Morehouse C, Brohawn P, Kiener PA, Richman L, Fiorentino D et al (2011) Patients with systemic lupus erythematosus, myositis, rheumatoid arthritis and scleroderma share activation of a common type I interferon pathway. Ann Rheum Dis 70(11):2029–2036

    Article  PubMed  CAS  Google Scholar 

  17. Monneaux F, Muller S (2002) Epitope spreading in systemic lupus erythematosus: identification of triggering peptide sequences. Arthritis Rheum 46(6):1430–1438

    Article  PubMed  CAS  Google Scholar 

  18. Hakkim A, Furnrohr BG, Amann K, Laube B, Abed UA, Brinkmann V, Herrmann M, Voll RE, Zychlinsky A (2010) Impairment of neutrophil extracellular trap degradation is associated with lupus nephritis. Proc Natl Acad Sci USA 107(21):9813–9818

    Article  PubMed  Google Scholar 

  19. Malleson PN, Mackinnon MJ, Sailer-Hoeck M, Spencer CH (2010) Review for the generalist: The antinuclear antibody test in children – When to use it and what to do with a positive titer. Pediatr Rheumatol Online J 8:27

    Article  PubMed  PubMed Central  Google Scholar 

  20. Bertouch JV, Roberts-Thompson PJ, Feng PH, Bradley J (1983) C‑reactive protein and serological indices of disease activity in systemic lupus erythematosus. Ann Rheum Dis 42(6):655–658

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  21. Aggarwal R, Ringold S, Khanna D, Neogi T, Johnson SR, Miller A, Brunner HI, Ogawa R, Felson D, Ogdie A et al (2015) Distinctions between diagnostic and classification criteria? Arthritis Care Res 67(7):891–897

    Article  Google Scholar 

  22. Tucker LB (2007) Making the diagnosis of systemic lupus erythematosus in children and adolescents. Lupus 16(8):546–549

    Article  PubMed  CAS  Google Scholar 

  23. Volpi S, Tsui J, Mariani M, Pastorino C, Caorsi R, Sacco O, Ravelli A, Shum AK, Gattorno M, Picco P (2017) Type I interferon pathway activation in COPA syndrome. Clin Immunol. https://doi.org/10.1016/j.clim.2017.10.001

    Article  PubMed  Google Scholar 

  24. Crow YJ (2015) Type I interferonopathies: mendelian type I interferon up-regulation. Curr Opin Immunol 32:7–12

    Article  PubMed  CAS  Google Scholar 

  25. Ruiz-Irastorza G, Ramos-Casals M, Brito-Zeron P, Khamashta MA (2010) Clinical efficacy and side effects of antimalarials in systemic lupus erythematosus: a systematic review. Ann Rheum Dis 69(1):20–28

    Article  PubMed  CAS  Google Scholar 

  26. Hochberg MC (1997) Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 40(9):1725

    Article  PubMed  CAS  Google Scholar 

  27. Petri M, Orbai AM, Alarcon GS, Gordon C, Merrill JT, Fortin PR, Bruce IN, Isenberg D, Wallace DJ, Nived O et al (2012) Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus. Arthritis Rheum 64(8):2677–2686

    Article  PubMed  PubMed Central  Google Scholar 

  28. Cervera R, Khamashta MA, Font J, Sebastiani GD, Gil A, Lavilla P, Mejia JC, Aydintug AO, Chwalinska-Sadowska H, de Ramon E et al (2003) Morbidity and mortality in systemic lupus erythematosus during a 10-year period: a comparison of early and late manifestations in a cohort of 1,000 patients. Medicine (Baltimore) 82(5):299–308

    Article  Google Scholar 

  29. Weening JJ, D’Agati VD, Schwartz MM et al, International Society of Nephrology Working Group on the Classification of Lupus Nephritis; Renal Pathology Society Working Group on the Classification of Lupus Nephritis (2004) The classification of glomerulonephritis in systemic lupus erythematosus revisited. Kidney Int 65:521–530

    Article  PubMed  Google Scholar 

  30. Arbeitsgemeinschaft für Pädiatrische Nephrologie (APN) (2007) Therapieempfehlung zur Lupusnephritis bei Kindern und Jugendlichen. Monatsschr Kinderheilkd. https://doi.org/10.1007/s00112-007-1634-2

    Article  Google Scholar 

  31. Mina R, von Scheven E, Ardoin SP, Eberhard BA, Punaro M, Ilowite N, Hsu J, Klein-Gitelman M, Moorthy LN, Muscal E et al (2012) Consensus treatment plans for induction therapy of newly diagnosed proliferative lupus nephritis in juvenile systemic lupus erythematosus. Arthritis Care Res 64(3):375–383

    Article  Google Scholar 

  32. Groot N, de Graeff N, Marks SD, Brogan P, Avcin T, Bader-Meunier B, Dolezalova P, Feldman BM, Kone-Paut I, Lahdenne P et al (2017) European evidence-based recommendations for the diagnosis and treatment of childhood-onset lupus nephritis: the SHARE initiative. Ann Rheum Dis 76(12):1965–1973

    Article  PubMed  Google Scholar 

  33. Ginzler EM, Dooley MA, Aranow C, Kim MY, Buyon J, Merrill JT, Petri M, Gilkeson GS, Wallace DJ, Weisman MH et al (2005) Mycophenolate mofetil or intravenous cyclophosphamide for lupus nephritis. N Engl J Med 353(21):2219–2228

    Article  PubMed  CAS  Google Scholar 

  34. Bohan A, Peter JB (1975) Polymyositis and dermatomyositis (first of two parts). N Engl J Med 292(7):344–347

    Article  PubMed  CAS  Google Scholar 

  35. Kimball AB, Summers RM, Turner M, Dugan EM, Hicks J, Miller FW, Rider LG (2000) Magnetic resonance imaging detection of occult skin and subcutaneous abnormalities in juvenile dermatomyositis. Implications for diagnosis and therapy. Arthritis Rheum 43(8):1866–1873

    Article  PubMed  CAS  Google Scholar 

  36. Bitnum S, Daeschner CW Jr., Travis LB, Dodge WF, Hopps HC (1964) Dermatomyositis. J Pediatr 64:101–131

    Article  PubMed  CAS  Google Scholar 

  37. Enders FB, Bader-Meunier B, Baildam E, Constantin T, Dolezalova P, Feldman BM, Lahdenne P, Magnusson B, Nistala K, Ozen S et al (2017) Consensus-based recommendations for the management of juvenile dermatomyositis. Ann Rheum Dis 76(2):329–340

    Article  PubMed  Google Scholar 

  38. Ruperto N, Pistorio A, Oliveira S, Zulian F, Cuttica R, Ravelli A, Fischbach M, Magnusson B, Sterba G, Avcin T et al (2016) Prednisone versus prednisone plus ciclosporin versus prednisone plus methotrexate in new-onset juvenile dermatomyositis: a randomised trial. Lancet 387(10019):671–678

    Article  PubMed  Google Scholar 

  39. Dressler F, Huppertz HI (2006) Juvenile dermatomyositis. Z Rheumatol 65(7):587–590

    Article  PubMed  CAS  Google Scholar 

  40. Rouster-Stevens KA, Gursahaney A, Ngai KL, Daru JA, Pachman LM (2008) Pharmacokinetic study of oral prednisolone compared with intravenous methylprednisolone in patients with juvenile dermatomyositis. Arthritis Rheum 59(2):222–226

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  41. Robinson AB, Reed AM (2011) Clinical features, pathogenesis and treatment of juvenile and adult dermatomyositis. Nat Rev Rheumatol 7(11):664–675

    Article  PubMed  CAS  Google Scholar 

  42. Huber AM, Robinson AB, Reed AM, Abramson L, Bout-Tabaku S, Carrasco R, Curran M, Feldman BM, Gewanter H, Griffin T et al (2012) Consensus treatments for moderate juvenile dermatomyositis: beyond the first two months. Results of the second Childhood Arthritis and Rheumatology Research Alliance consensus conference. Arthritis Care Res (hoboken) 64(4):546–553

    Article  Google Scholar 

  43. Hinze CH, Oommen P, Dressler F, Schara U, Weller-Heinemann F, Brunner J, Föll D, Lainka E, Neudorf U, Schwarz T et al (2017) Development of consensus-based treat-to-target protocols for the management of juvenile dermatomyositis in Germany. Pediatr Rheumatol Online J 15(Suppl 2):287

    Google Scholar 

  44. Rider LG, Aggarwal R, Pistorio A, Bayat N, Erman B, Feldman BM, Huber AM, Cimaz R, Cuttica RJ, de Oliveira SK et al (2017) 2016 American College of Rheumatology/European League Against Rheumatism Criteria for Minimal, Moderate, and Major Clinical Response in Juvenile Dermatomyositis: An International Myositis Assessment and Clinical Studies Group/Paediatric Rheumatology International Trials Organisation Collaborative Initiative. Arthritis Rheumatol 69(5):911–923

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  45. Zulian F, Balzarin M, Birolo C (2017) Recent advances in the management of juvenile systemic sclerosis. Expert Rev Clin Immunol 13(4):361–369

    Article  PubMed  CAS  Google Scholar 

  46. Martini G, Foeldvari I, Russo R, Cuttica R, Eberhard A, Ravelli A, Lehman TJ, de Oliveira SK, Susic G, Lyskina G et al (2006) Systemic sclerosis in childhood: clinical and immunologic features of 153 patients in an international database. Arthritis Rheum 54(12):3971–3978

    Article  PubMed  CAS  Google Scholar 

  47. Trang G, Steele R, Baron M, Hudson M (2012) Corticosteroids and the risk of scleroderma renal crisis: a systematic review. Rheumatol Int 32(3):645–653

    Article  PubMed  CAS  Google Scholar 

  48. Distler JH, Feghali-Bostwick C, Soare A, Asano Y, Distler O, Abraham DJ (2017) Review: frontiers of Antifibrotic therapy in systemic sclerosis. Arthritis Rheumatol 69(2):257–267

    Article  PubMed  Google Scholar 

  49. Stiller M, Golder W, Doring E, Biedermann T (2000) Primary and secondary Sjogren’s syndrome in children – a comparative study. Clin Oral Investig 4(3):176–182

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Klinik für Kinder- und Jugendmedizin, Pädiatrische Rheumatologie, Klinikum der RWTH Aachen, Pauwelsstr. 30, 52074, Aachen, Deutschland

    N. Wagner &  K. Tenbrock

  2. Klinik für Pädiatrische Rheumatologie und Immunologie, Universitätsklinikum Münster, Münster, Deutschland

    C. Hinze

Authors
  1. C. Hinze
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. N. Wagner
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. K. Tenbrock
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to K. Tenbrock.

Ethics declarations

Interessenkonflikt

K. Tenbrock, C. Hinze und N. Wagner geben an, dass kein Interessenkonflikt besteht.

Dieser Beitrag beinhaltet keine von den Autoren durchgeführten Studien an Menschen oder Tieren.

Additional information

Redaktion

G. Hansen, Hannover

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Hinze, C., Wagner, N. & Tenbrock, K. Kollagenosen im Kindes- und Jugendalter. Monatsschr Kinderheilkd 166, 562–571 (2018). https://doi.org/10.1007/s00112-018-0498-y

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00112-018-0498-y

Schlüsselwörter

Keywords

Search

Navigation