Рецепт. 2019; : 454-461
Лечение аутоиммунного полигландулярного синдрома 1-го типа у детей. Хроническая надпочечниковая недостаточность
Аннотация
Аутоиммунный полигландулярный синдром (АПС) 1-го типа – это моногенное заболевание, для которого характерно наличие 2 из 3 основных компонентов (гипопаратиреоз, первичная надпочечниковая недостаточность и кожно-слизистый кандидоз). Ведение пациентов с АПС 1-го типа требует мультидисциплинарного подхода. В статье представлен обзор литера- туры по лечению одного из эндокринных компонентов классической триады АПС 1-го типа – хронической надпочечниковой недостаточности. Распространенность гипокортицизма у пациентов с АПС 1-го типа составляет 63–83%. Лечение адреналовой недостаточности основано на пероральном приеме глюкокортикоидов. В детском возрасте предпочтительно применение гидрокортизона. В норме выработка кортизола имеет определенный цикадный ритм и про- исходит в пульсаторном режиме. Традиционная терапия гидрокортизоном обладает рядом недостатков: создание супрафизиологических уровней гормона после приема препарата с последующей гипокортизолемией, невозможность обеспечить сходный с нормальным про- филь концентраций кортизола в ночное время и ранние утренние часы. В настоящее время предложены два способа заместительной терапии, имитирующих физиологическую секрецию кортизола в организме: таблетированные формы с замедленным и двухфазным высвобождением препарата и непрерывное подкожное введение гормона – помповая терапия. При мониторинге лечения хронической надпочечниковой недостаточности у детей международные руководства рекомендуют опираться на клинические данные. Нецелесообразно использование показателей адренокортикотропного гормона и кортизола. Разработка и внедрение новых технологий введения препаратов позволит приблизить заместительную терапию при АПС 1-го типа к физиологическому характеру секреции гормонов, повысить качество жизни пациентов.
Список литературы
1. Bruserud O., Oftedal B.E., Landegren N. et al. (2016) A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1. J Clin Endocrinol Metab, vol. 101, no 8, pp. 2975–83.
2. Perheentupa J. (2006) Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab, vol. 91, no 8, pp. 2843–50.
3. Constantine G.M., Lionakis M.S. (2019) Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Immunol Rev, vol. 287, no 1, pp. 103–120.
4. Ten S., New M., MacLaren N. (2001) Clinical review 130: Addison’s disease 2001 // J Clin Endocrinol Metab, vol. 86, pp. 2909–2922.
5. Oprea A., Bonnet N.C., Pollé O. (2019) Novel insights into glucocorticoid replacement therapy for pediatric and adult adrenal insufficiency. Ther Adv Endocrinol Metab, vol 10, pp. 24–35.
6. Russell G.M., Durant C., Ataya A. (2014) Subcutaneous pulsatile glucocorticoid replacement therapy. Clin Endocrinol (Oxf), vol. 81, no 2, pp. 289–93.
7. Lightman S.L, Wiles C.C., Atkinson H.C, et al. (2008) The significance of glucocorticoid pulsatility. Euro J Pharmacol, vol. 583, pp. 255–262.
8. Kerrigan J.R., Veldhuis J.D., Leyo S.A. et al. (1993) Estimation of daily cortisol production and clearance rates in normal pubertal males by deconvolution analysis. J Clin Endocrinol Metab, vol. 76, pp. 1505–1510.
9. Esteban N.V., Loughlin T., Yergey A.L et al. (1991) Daily cortisol production rate in man determined by stable isotope dilution/mass spectrometry. J Clin Endocrinol Metab, vol, 72, pp. 39–45.
10. Purnell J.Q., Brandon D.D., Isabelle L.M et al. (2004) Association of 24-hour cortisol production rates, cortisol-binding globulin, and plasma-free cortisol levels with body composition, leptin levels, and aging in adult men and women. J Clin Endocrinol Metab, vol. 89, pp. 281–287.
11. Linder B.L., Esteban NV, Yergey A.L. et al. (1990) Cortisol production rate in childhood and adolescence. J Pediatr, vol. 117, pp. 892–896.
12. Bornstein S.R., Allolio B., Arlt W. et al. (2016) Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab, vol. 101, no 2, pp. 364–89.
13. Barbhaiya R.H., Welling P.G. (1982) Influence of food on the absorption of hydrocortisone from the gastrointestinal tract. Drug Nutr Interact, vol. 1, no 2, pp. 103–12.
14. Ekman B., Bachrach-Lindström M., Lindström T. et al. (2012) A randomized, double-blind, crossover study comparing two- and four-dose hydrocortisone regimen with regard to quality of life, cortisol and ACTH profiles in patients with primary adrenal insufficiency. Clin Endocrinol (Oxf), vol. 77, no 1, pp. 18–25.
15. Toothaker R.D., Craig W.A., Welling P.G. (1982) Effect of dose size on the pharmacokinetics of oral hydrocortisone suspension. J Pharm Sci, vol. 71, pp. 1182–1185.
16. Diederich S., Eigendorff E., Burkhardt P. et al. (2002) 11beta-hydroxysteroid dehydrogenase types 1 and 2: an important pharmacokinetic determinant for the activity of synthetic mineralo- and glucocorticoids. J Clin Endocrinol Metab, vol. 87, pp. 5695–5701.
17. Perogamvros I., Ray D.W., Trainer P.J. (2012) Regulation of cortisol bioavailability-effects on hormone measurement and action. Nat Rev Endocrinol, vol. 8, no 12, pp. 717–27.
18. Hindmarsh P.C., Charmandari E. (2015) Variation in absorption and half-life of hydrocortisone influence plasma cortisol concentrations. Clin Endocrinol (Oxf), vol. 82, no 4, pp. 557–61.
19. Porter J., Blair J., Ross R.J. (2017) Is physiological glucocorticoid replacement important in children? Arch Dis Child, vol. 102, no 2, pp. 199–205.
20. Whitaker M.J., Debono M., Huatan H. et al. (2004) An oral multiparticulate, modified-release, hydrocortisone replacement therapy that provides physiological cortisol exposure. Clin Endocrinol (Oxf), vol. 80, pp. 554–61.
21. Johannsson G., Nilsson A.G., Bergthorsdottir R. et al. (2012) Improved cortisol exposure-time profile and outcome in patients with adrenal insufficiency: a prospective randomized trial of a novel hydrocortisone dual-release formulation. J Clin Endocrinol Metab, vol. 97, pp. 473–81.
22. Mallappa A., Sinaii N., Kumar P. et al. (2015) A phase 2 study of Chronocort, a modified-release formulation of hydrocortisone, in the treatment of adults with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab, vol. 100, pp. 1137–45.
23. Björnsdottir S., Øksnes M., Isaksson M. et al. (2015) Circadian hormone profiles and insulin sensitivity in patients with Addison’s disease: a comparison of continuous subcutaneous hydrocortisone infusion with conventional glucocorticoid replacement therapy. Clin Endocrinol (Oxf), vol. 83, pp. 28–35
24. Lightman S.L., Conway-Campbell B.L. (2010) The crucial role of pulsatile activity of the HPA axis for continuous dynamic equilibration. Nat Rev Neurosci, vol. 11, no 10, pp. 710–8.
25. Mallappa A., Debono M. (2016) Recent advances in hydrocortisone replacement treatment. Endocr Dev, vol. 46, pp. 263–268.
26. Rousseau E., Joubert M., Trzepla G. et al. (2015) Usefulness of Time-Point Serum Cortisol and ACTH Measurements for the Adjustment of Glucocorticoid Replacement in Adrenal Insufficiency. PLoS One, vol. 10, no. 8, pp. 123–137.
27. Haas CS, Rahvar AH, Danneberg S. et al. (2016) Low impact of urinary cortisol in the assessment of hydrocortisone replacement therapy. Horm Metab Res, vol. 48, pp. 571–574.
Recipe. 2019; : 454-461
Treatment of Autoimmune Polyglandular Syndrome Type 1 in Children. Chronic Adrenal Insufficiency
Abstract
Autoimmune polyendocrine syndrome type 1 (APS1) is a monogenic disease, defined by the presence of two of the three major components: hypoparathyroidism, primary adrenocortical insufficiency and chronic mucocutaneous candidiasis. Management of patients with APS type 1 requires a multidisciplinary approach. The article presents a review of literature on treatment of one of the APS type 1 classic triad endocrine components – chronic adrenal insufficiency. The prevalence of hypocorticism in patients with type 1 APS is 63–83%. Pharmacological treatment of adrenal insufficiency relies on oral replacement therapy, in children mainly with hydrocortisone. Normally, cortisol production has a certain circadian rhythm and occurs in the pulsatile mode. Traditional therapy with hydrocortisone has a number of disadvantages: the creation of several spikes in cortisol concentrations over the day, often to supraphysiological concentrations, followed by prolonged periods of hypocortisolaemia between doses, the inability to provide similar to the normal profile of the concentrations of cortisol during the night and early morning hours. Currently, two methods of replacement therapy simulating the physiological secretion of cortisol are proposed: tablet forms with delayed and dual-phase release of the drug and continuous subcutaneous administration of the hormone – pump therapy. International guidelines suggest monitoring glucocorticoid replacement in children by clinical assessment. It is not recommended to use levels of adrenocorticotropic hormone (ACTH) and cortisol. The development of drug administration new technologies will make replacement therapy in type 1 APS closer to the physiological hormone secretion, improve the quality of life of patients.
References
1. Bruserud O., Oftedal B.E., Landegren N. et al. (2016) A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1. J Clin Endocrinol Metab, vol. 101, no 8, pp. 2975–83.
2. Perheentupa J. (2006) Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab, vol. 91, no 8, pp. 2843–50.
3. Constantine G.M., Lionakis M.S. (2019) Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Immunol Rev, vol. 287, no 1, pp. 103–120.
4. Ten S., New M., MacLaren N. (2001) Clinical review 130: Addison’s disease 2001 // J Clin Endocrinol Metab, vol. 86, pp. 2909–2922.
5. Oprea A., Bonnet N.C., Pollé O. (2019) Novel insights into glucocorticoid replacement therapy for pediatric and adult adrenal insufficiency. Ther Adv Endocrinol Metab, vol 10, pp. 24–35.
6. Russell G.M., Durant C., Ataya A. (2014) Subcutaneous pulsatile glucocorticoid replacement therapy. Clin Endocrinol (Oxf), vol. 81, no 2, pp. 289–93.
7. Lightman S.L, Wiles C.C., Atkinson H.C, et al. (2008) The significance of glucocorticoid pulsatility. Euro J Pharmacol, vol. 583, pp. 255–262.
8. Kerrigan J.R., Veldhuis J.D., Leyo S.A. et al. (1993) Estimation of daily cortisol production and clearance rates in normal pubertal males by deconvolution analysis. J Clin Endocrinol Metab, vol. 76, pp. 1505–1510.
9. Esteban N.V., Loughlin T., Yergey A.L et al. (1991) Daily cortisol production rate in man determined by stable isotope dilution/mass spectrometry. J Clin Endocrinol Metab, vol, 72, pp. 39–45.
10. Purnell J.Q., Brandon D.D., Isabelle L.M et al. (2004) Association of 24-hour cortisol production rates, cortisol-binding globulin, and plasma-free cortisol levels with body composition, leptin levels, and aging in adult men and women. J Clin Endocrinol Metab, vol. 89, pp. 281–287.
11. Linder B.L., Esteban NV, Yergey A.L. et al. (1990) Cortisol production rate in childhood and adolescence. J Pediatr, vol. 117, pp. 892–896.
12. Bornstein S.R., Allolio B., Arlt W. et al. (2016) Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab, vol. 101, no 2, pp. 364–89.
13. Barbhaiya R.H., Welling P.G. (1982) Influence of food on the absorption of hydrocortisone from the gastrointestinal tract. Drug Nutr Interact, vol. 1, no 2, pp. 103–12.
14. Ekman B., Bachrach-Lindström M., Lindström T. et al. (2012) A randomized, double-blind, crossover study comparing two- and four-dose hydrocortisone regimen with regard to quality of life, cortisol and ACTH profiles in patients with primary adrenal insufficiency. Clin Endocrinol (Oxf), vol. 77, no 1, pp. 18–25.
15. Toothaker R.D., Craig W.A., Welling P.G. (1982) Effect of dose size on the pharmacokinetics of oral hydrocortisone suspension. J Pharm Sci, vol. 71, pp. 1182–1185.
16. Diederich S., Eigendorff E., Burkhardt P. et al. (2002) 11beta-hydroxysteroid dehydrogenase types 1 and 2: an important pharmacokinetic determinant for the activity of synthetic mineralo- and glucocorticoids. J Clin Endocrinol Metab, vol. 87, pp. 5695–5701.
17. Perogamvros I., Ray D.W., Trainer P.J. (2012) Regulation of cortisol bioavailability-effects on hormone measurement and action. Nat Rev Endocrinol, vol. 8, no 12, pp. 717–27.
18. Hindmarsh P.C., Charmandari E. (2015) Variation in absorption and half-life of hydrocortisone influence plasma cortisol concentrations. Clin Endocrinol (Oxf), vol. 82, no 4, pp. 557–61.
19. Porter J., Blair J., Ross R.J. (2017) Is physiological glucocorticoid replacement important in children? Arch Dis Child, vol. 102, no 2, pp. 199–205.
20. Whitaker M.J., Debono M., Huatan H. et al. (2004) An oral multiparticulate, modified-release, hydrocortisone replacement therapy that provides physiological cortisol exposure. Clin Endocrinol (Oxf), vol. 80, pp. 554–61.
21. Johannsson G., Nilsson A.G., Bergthorsdottir R. et al. (2012) Improved cortisol exposure-time profile and outcome in patients with adrenal insufficiency: a prospective randomized trial of a novel hydrocortisone dual-release formulation. J Clin Endocrinol Metab, vol. 97, pp. 473–81.
22. Mallappa A., Sinaii N., Kumar P. et al. (2015) A phase 2 study of Chronocort, a modified-release formulation of hydrocortisone, in the treatment of adults with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab, vol. 100, pp. 1137–45.
23. Björnsdottir S., Øksnes M., Isaksson M. et al. (2015) Circadian hormone profiles and insulin sensitivity in patients with Addison’s disease: a comparison of continuous subcutaneous hydrocortisone infusion with conventional glucocorticoid replacement therapy. Clin Endocrinol (Oxf), vol. 83, pp. 28–35
24. Lightman S.L., Conway-Campbell B.L. (2010) The crucial role of pulsatile activity of the HPA axis for continuous dynamic equilibration. Nat Rev Neurosci, vol. 11, no 10, pp. 710–8.
25. Mallappa A., Debono M. (2016) Recent advances in hydrocortisone replacement treatment. Endocr Dev, vol. 46, pp. 263–268.
26. Rousseau E., Joubert M., Trzepla G. et al. (2015) Usefulness of Time-Point Serum Cortisol and ACTH Measurements for the Adjustment of Glucocorticoid Replacement in Adrenal Insufficiency. PLoS One, vol. 10, no. 8, pp. 123–137.
27. Haas CS, Rahvar AH, Danneberg S. et al. (2016) Low impact of urinary cortisol in the assessment of hydrocortisone replacement therapy. Horm Metab Res, vol. 48, pp. 571–574.
