DOI: https://doi.org/10.22141/2224-0721.4.60.2014.76677

Autoimmune Polyendocrine Syndromes: Classification, Clinical Picture, Diagnosis, Treatment

A.S. Prilutsky, O.A. Prilutskaya, Ye.S. Strelchenko

Abstract


Autoimmune polyendocrine syndromes are the actual problem of modern medicine, as include the development of several autoimmune endocrinopathies in the same patient, associated with autoimmune nonendocrine pathology. The review presents a comparative analysis of four types of autoimmune polyendocrine syndromes, as well as current data on their clinical picture, diagnosis and treatment.


Keywords


autoimmune polyendocrine syndromes; classification; autoimmune diseases; Addison’s disease

References


Dittmar M. Polyglandular autoimmune syndromes: immunogenetics and long-term follow-up / M. Dittmar, G.J. Kahaly // Journal of Clinical Endocrinology and Metabolism. — 2003. — Vol. 88, № 7. — Р. 2983-2992.

Addison T. 1855 on the constitutional and local effects of disease of the suprarenal capsules. In a collection of the published writing of the late / Thomas Addison. — London: New Sydenham Society, 1868; Reprinted in Medical Classics, 1937. — Р. 244-293.

Claude H. Insuffisance pluriglandulaire endocrinienne / H. Claude, H. Gourgerot // Journal Physiol. Pathol. Gen. — 1908. — Vol. 10. — P. 469-80.

Schmidt M.B. Eine biglandulare Erkrankung (Nebennieren und Schilddrüse) bei Morbus Addisonii / M.B. Schmidt // Verh. Dtsch. Ges. Pathol. — 1926. — Vol. 21. — Р. 212-221.

Carpenter C.J. Schmidt’s syndrome (thyroid and adrenal insufficiency): a review of the literature and a report of fifteen new cases including ten instances of coexistent diabetes Mellitus / C.J. Carpenter, N. Solomon, Silverberg et al. // Medicine. — 1964. — Vol. 43. — P. 153-180.

Neufeld M. Polyglandular autoimmune diseases / M. Neufeld, R.M. Blizzard // Pediatr Ann. — 1980. — Vol. 9, № 4. — P. 154-162.

Betterle C. Update on autoimmune polyendocrine syndromes (APS) / C. Betterle, R. Zanchetta // Acta Biomedica. — 2003. — Vol. 74. — P. 9-33.

Finnish-German APECED Consortium. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD type zinc-finger domains // Nature Genetics. — 1997. — Vol. 17. — P. 399-403.

Anderson M.S. Projection of an immunological self shadow within the thymus by the aire protein / M.S. Anderson, E.S.Venanzi, L. Klein [et al.] // Science. — 2002. — Vol. 298. — P. 1395-1401.

Conti H.R. Th17 cells and IL-17 receptor signaling are essential for mucosal host defense against oral candidiasis / H.R. Conti, F. Shen, N. Nayyar [et al.] // Journal of Experimental Medicine. — 2009. — Vol. 206, № 2. — P. 299-311.

Puel A. Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I / A. Puel, R. Doffinger, A. Natividad [et al.] // Journal of Experimental Medicine. — 2010. — Vol. 207, № 2. — P. 291-297.

Kumar P.G. Population genetics and functions of the autoimmune regulator (AIRE) / P.G. Kumar, M. Laloraya, J.X. She // Endocrinology and Metabolism Clinics of North America. — 2002. — Vol. 31. — P. 321-338.

Pearce S.H. A common and recurrent 13 — bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1 / S.H. Pearce, T. Cheetham, H. Imrie [et al.] // American Journal of Human Genetics. — 1998. — Vol. 63. — P. 1675-1684.

Scott H.S. Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins / H.S. Scott, M. Heino, P. Peterson [et al.] // Molecular Endocrinology. — 1998. — Vol. 12. — P. 1112-1119.

Rosatelli M.C. A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients / M.C. Rosatelli, A. Meloni, M. Devoto [et al.] // Human genetics. — 1998. — Vol. 103, № 4. — P. 428-434.

Zlotogora J. Polyglandular autoimmune syndrome type I among Iranian Jews / J. Zlotogora, M.S. Shapiro // Journal of Medical Genetics. — 1992. — Vol. 29, № 11. — P. 824-826.

Betterle C. Clinical review 93: autoimmune polyglandular syndrome type 1 / C. Betterle, N.A. Greggio, M. Volpato // Journal of Clinical Endocrinology & Metabolism. — 1998. — Vol. 83, № 4. — P. 1049-1055.

Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy / J. Perheentupa // Journal of Clinical Endocrinology & Metabolism. — 2006. — Vol. 91, № 8. — P. 2843-2850.

Meager A. Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1 / A. Meager, K. Visvalingam, P. Peterson [et al.] // PLOS Medicine. — 2006. — Vol. 3, № 7. — P. 289.

Soderbergh A. Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I / A. Soderbergh, A.G. Myhre, O. Ekwall [et al.] // Journal of Clinical Endocrinology & Metabolism. — 2004. — Vol. 89(2). — P. 557-562.

Ahonen P. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients / P. Ahonen, S. Myllarniemi, I. Sipila, J. Perheentupa // New England Journal of Medicine. — 1990. — Vol. 322, № 26. — P. 1829-1836.

Ulinski T. Autoimmune polyendocrinopathy — candidiasis — ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activity / T. Ulinski, L. Perrin, M. Morris [et al.] // Journal of Clinical Endocrinology & Metabolism. — 2006. — Vol. 91, № 1. — P. 192-195.

Garcha-Hernández F.J. Autoimmune polyglandular syndrome and pulmonary arterial hypertension / F.J. Garcha-Hernández, C. Ocaсa-Medina, R. González-Leуn [et al.] // European Respiratory Journal. — 2006. — Vol. 27, № 3. — P. 657-658.

Alimohammadi M. Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen / M. Alimohammadi, N. Dubois, F. Skoldberg, A. Hallgren, I. Tardivel, H. Hedstrand [et al.] // Proceedings of the National Academy of Sciences of the United States of America. — 2009. — Vol. 106, № 11. — P. 4396-4401.

Myhre A.G. Autoimmune polyendocrine syndrome type 1 (APS I) in Norway / A.G. Myhre, M. Halonen, P. Eskelin, O. Ekwall [et al.] // Clin. Endocrinol. — 2001. — Vol. 54. — P. 211-217.

Oelkers W. Adrenal insufficiency / W. Oelkers // The New England Journal of Medicine. — 1996. — Vol. 335. — P. 1206-1212.

Ten S. Clinical Review 130: Addison’s disease / S. Ten, M. New, N. MacLaren // Journal of Clinical Endocrinology & Metabolism. — 2001. — Vol. 86. — P. 2909-2922.

Betterle C. Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction / C. Betterle, C. Dal Pra, F. Mantero, R. Zanchetta // Endocrine Reviews. — 2002. — Vol. 23. — P. 327-364.

Schatz D.A. Autoimmune polyglandular syndrome. II: Clinical syndrome and treatment / D.A. Schatz, W.E. Winter // Endocrinol. Metab. Clin. North. Am. — 2002. — Vol. 31. — P. 339-352.

Michels A.W. Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2) / A.W. Michels, G.S. Eisenbarth // Journal of Internal Medicine. — 2009. — Vol. 265. — P. 530-540.

Wallaschofski H. HLADQA1*0301-associated susceptibility for autoimmune polyglandular syndrome type II and III / H. Wallaschofski, A. Meyer, U. Tuschy, T. Lohmann // Hormone and Metabolic Research. — 2003. — Vol. 35. — P. 120-124.

Skordis N. Immunogenetics of autoimmune polyglandular syndromes / Skordis N., Maclaren N. — Chapter 15th // Immunogenetics of Endocrine Disorders. — N.R. Farid (ed.), R. Liss Alan, Inc. — New York, 1988. — P. 373-399.

Graves L. Addisonian crisis precipitated by thyroxine therapy: a complication of type 2 autoimmune polyglandular syndrome / L. Graves, R.M. Klein, A.D. Walling // Southern Medical Journal. — 2003. — Vol. 96. — P. 824-827.

Robles DT. The genetics of autoimmune polyendocrine syndrome type II / D.T. Robles, P.R. Fain, P.A. Gottleib, G.S. Eisenbarth // Endocrinology and Metabolism Clinics of North America. — 2002. — Vol. 31. — P. 353-368.

Muir A. Autoimmune diseases of the adrenal glands, parathyroid glands, gonads, and hypothalamic — pituitary axis / A. Muir, N.K. Maclaren // Endocrinology and Metabolism Clinics of North America. — 1991. — Vol. 20. — P. 619-644.

Krohn K. Identification by molecular cloning of an autoantigen associated with Addison’ disease as steroid 17-a- hydroxylase / K. Krohn // Lancet. — 1992. — P. 339-770.

Weetman A.P. Graves’ Disaese / A.P. Weetman // The New England Journal of Medicine. — 2000. — Vol. 34. — P. 1236-1248.

Dayan C.M. Chronic autoimmune thyroiditis / C.M. Dayan, G.H. Daniels // The New England Journal of Medicine. — 1996. — Vol. 335. — P. 99.

Eisenbarth G.S. Autoimmune polyendocrine syndromes / G.S. Eisenbarth, P.A. Gottlieb // The New England Journal of Medicine. — 2004. — Vol. 350. — P. 2068-2079.

Gumieniak O. Schmidt’s syndrome and severe hyponatremia: report of an unusual case and review of the related literature / O. Gumieniak, A.P. Farwell // Endocrine Practice. — 2003. — Vol. 9. — P. 384-388.

Muir A. Advances in the genetic and immunology of autoimmune polyglandular syndrome II/III and their clinical applications / A. Muir, J.X. She // Annals of Internal Medicine. — 1999. — Vol. 150. — P. 301-12.

Kahaly G.J. Polyglandular autoimmune syndromes / G.J. Kahaly // European Journal of Endocrinology. — 2009. — Vol. 161, № 1. — P. 11-20.

Villano M.J., Huber A.K., Greenberg D.A. et al. Autoimmune thyroiditis and diabetes: dissecting the joint genetic susceptibility in a large cohort of multiplex families / M.J. Villano, A.K. Huber, D.A. Greenberg [et al.] // Journal of Clinical Endocrinology & Metabolism. — 2009. — Vol. 94, № 4. — P. 1458-1466.

Huber A. Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms / A. Huber, F. Menconi, S. Corathers [et al.] // Endocrine Reviews. — 2008. — Vol. 29, № 6. — P. 697-725.

Fourati H. HLA-DRB1/DQB1 susceptibility for autoimmune polyglandular syndrome type II and III in south of Tunisia / H. Fourati, N. Mahfoudh, O. Abida [et al.] // Annales d’Endocrinologie. — 2011. — 72, № 3. — P. 232-238.

Anderson M.S. Update in endocrine autoimmunity / M.S. Anderson // Journal of Clinical Endocrinology & Metabolism. — 2008. — Vol. 93. — P. 3663-3670.

Driessche A. Van den. Type 1 diabetes and autoimmune polyglandular syndrome: a clinical review / A. Van den Driessche, V. Eenkhoorn, L. Van Gaal // The Netherlands Journal of Medicine. — 2009. — Vol. 67, № 11. — P. 376-87.

Quintos J.B. Autoimmune polyglandular syndrome Type 3 and growth hormone deficiency / J.B. Quintos, M. Grover, C.M. Boney, M. Salas [et al.] // Pediatric Diabetes. — 2010. — Vol. 11, № 6. — P. 438-442.

Ugur-Altun B. Autoimmune polyglandular syndrome type III in monozygotic twins: a case report / B. Ugur-Altun, E. Arikan, S. Guldiken, M. Kara // Acta Clinica Belgica. — 2004. — Vol. 59, № 4. — P. 225-228.

Shimomura H. A rare case of autoimmune polyglandular syndrome type 3 / H. Shimomura, Y. Nakase, H. Furuta, M. Nishi [et al.] // Diabetes Research and Clinical Practice. — 2003. — Vol. 61, № 2. — P. 103-108.

Oki K. A case of polyglandular autoimmune syndrome type III complicated with autoimmune hepatitis / K. Oki, K. Yamane, J. Koide, K. Mandai [et al.] // Endocrine Journal. — 2006. — Vol. 53, № 5. — P. 705-709.

Noriko O. Autoimmune Polyglandular Syndrome Type III Associated with Slowly Progressive Type 1 Diabetes Mellitus, Chronic Thyroiditis, Pernicious Anemia and Idiopathic Thrombocytopenic Purpura: A Case Report / O. Noriko, T. Junko, Y. Yuko [et al.] // Journal of the Japan Diabetic Society. — 2006. — Vol. 49. — P. 723-729.

Lubinska M. Acquired von Willebrand’s syndrome in a patient with severe primary hypothyroidism associated with myasthenia gravis in the course of autoimmune polyglandular syndrome type 3 / M. Lubinska, R. Swiatkowska-Stodulska, E. Kazimierska // Haemophilia. — 2007. — Vol. 13, № 5. — P. 675-676.

Betterle C. Generalità sulle Malattie Autoimmuni / C. Betterle, F. Presotto, R. Zanchetta // Le Malattie Autoimmuni. — Piccin (Ed.) Padova. — 2001. — P. 9-36.

Mohan M.P. Multiple autoimmune syndrome / M.P. Mohan, T.C. Ramesh // Indian Journal of Dermatology, Venereology and Leprology. — 2003. — Vol. 69. — P. 298-299.

Ai J. Autoimmune thyroid diseases: Etiology, pathogenesis, and dermatologic manifestations / Ai J., J.M. Leonhardt, W.R. Heymann // Journal of the American Academy of Dermato-logy. — 2003. — Vol. 48. — P. 641-659.

Humbert P. Les syndromes autoimmuns multiples / P. Humbert, J.L. Dupont // Annals of Internal Medicine. — 1988. — Vol. 139. — P. 159-68.

Cojocaru M. Multiple autoimmune syndrome / M. Cojocaru, I. Silosi // Journal of clinical medicine. — Vol. 5, № 2. — 2010. — P. 132-134.




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