Follow-Up and Community Care of the Child With a Chronic Disease

EnglishTürkçe

CHAPTER


DOI :10.26650/B/CH32.2024.010.033   IUP :10.26650/B/CH32.2024.010.033    Full Text (PDF)

Follow-up and Community Care of the Child with Congenital Adrenal Hyperplasia

Ummahan Tercan

Congenital adrenal hyperplasia (CAH) is the most common cause of primary adrenal insufficiency in children. The most common cause of CAH is 21-hydroxylase deficiency, and the second most common cause is 11-beta hydroxylase deficiency; there are two types of 21-hydroxylase deficiency: classical and non-classical. The classical 21-hydroxylase deficiency is further divided into two subtypes: salt-wasting and simple virilizing. In our country, recent newborn screening programs have identified the incidence of 21-hydroxylase deficiency as 1:15,067 and the incidence of 11-beta hydroxylase deficiency as 1:60,270, and CAH has been included in the national newborn screening program. In classical 21-hydroxylase deficiency, since there is no ambiguous genital structure in boys, the diagnosis can be delayed compared to girls. Early diagnosis and treatment of newborns with 21-hydroxylase deficiency are of vital importance. Genetic counseling and opportunities for prenatal diagnosis and treatment are available in experienced centers. In the long term, growth-puberty, obesity-insulin resistance-cardiovascular problems, adrenal rest tissue and adrenal mass development, fertility status, and bone health are monitored. Children with CAH should receive all vaccinations recommended by the Ministry of Health appropriate for their age, including the annual influenza vaccine. Balanced nutrition with adequate calcium support is recommended. Regular physical activity is important in these children who are at risk for developing metabolic syndrome. Children with CAH should be supported to integrate well in school and social environments. Teachers and staff need to be educated about the signs and symptoms of possible acute trauma, stress, or adrenal crisis situations. On the website of the Pediatric Endocrinology and Diabetes Association, there are easily understandable and accessible information booklets for families to inform the public. In treatment, glucocorticoid and mineralocorticoid replacement therapy is administered, and surgical treatment is performed to correct the external genital structure. Monitoring is carried out at regular intervals for treatment efficacy and side effects. Meeting the psychological support needs of individuals with CAH for psychosocial adaptation and mental health is important.


Keywords: Congenital adrenal hyperplasia, 21-hydroxylase deficiency, CAH screening, treatment follow-up, emergency treatment, psychosocial support
DOI :10.26650/B/CH32.2024.010.033   IUP :10.26650/B/CH32.2024.010.033    Full Text (PDF)

Konjeni̇tal Adrenal Hi̇perplazi̇ Olan Çocuğun İzlemi̇ ve Toplumda Bakımı

Ummahan Tercan

Çocuklarda primer adrenal yetersizliğin en sık nedeni konjenital adrenal hiperplazi ’dir. Konjenital adrenal hiperplazinin (KAH) en sık sebebi 21-hidroksilaz eksikliği ikinci en sık sebebi 11-beta hidroksilaz eksikliğidir; 21-hidroksilaz eksikliğinin klasik ve klasik olmayan olarak iki tipi vardır. Klasik 21-hidroksilaz eksikliği ise tuz kaybettiren ve basit virilizan olmak üzere iki alt tipe ayrılır. Ülkemizde yakın zamanda yenidoğan tarama programı ile 21-hidroksilaz eksikliği insidansı:15 067, 11- beta hidroksilaz eksikliği insidansı ise 1:60 270 saptanmış, KAH ulusal yenidoğan tarama programı içine alınmıştır. Klasik 21-hidroksilaz eksikliğinde erkeklerde kuşkulu genital yapı olmadığından, kızlardan farklı olarak tanı gecikebilir. 21-hidroksilaz eksikliği olan yenidoğan bebeklerin erken tanı ve tedavisi hayati önem taşımaktadır. Genetik danışma ve deneyimli merkezlerde prenatal tanı ve tedavi olanağı mevcuttur. Uzun dönemde büyüme-puberte, obezite-insülin direnci-kardiyovasküler sorunlar, adrenal kalıntı dokusu ve adrenal kitle gelişimi, fertilite durumu ve kemik sağlığı açısından takip edilir. KAH’si olan çocuklara yaşına uygun Sağlık Bakanlığı tarafından önerilen tüm aşılar ve yıllık influenza aşısı yapılmalıdır. Dengeli beslenme ile yeterli kalsiyum desteği sağlanması önerilir. Metabolik sendrom gelişme riski bulunan bu çocuklarda düzenli fiziksel aktivite önemlidir. KAH’si olan çocukların okulda ve sosyal ortamlarında uyum içinde olmaları desteklenmelidir. Olası akut travma, stres veya adrenal kriz durumlarının belirti ve bulguları için öğretmen ve personelin bilinçlendirilmesi gerekmektedir. Çocuk Endokrinoloji ve Diyabet Derneği web sayfasında halkı bilgilendirmek için aileler tarafından kolay anlaşılabilir ve ulaşılabilir bilgilendirme kitapçıkları mevcuttur. Tedavide glukokortikoid ve mineralokortikoid replasmanı uygulanır ve dış genital yapıyı düzeltmek için cerrahi tedavi yapılır. Tedavi etkinliği ve yan etkiler açısından belirli aralıklarla izlemi yapılır. KAH’lı bireylerin psikososyal uyum ve ruh sağlığı açısından psikolojik destek ihtiyaçlarının karşılanması önemlidir.


Keywords: Konjenital adrenal hiperplazi, 21-hidroksilaz eksikliği, KAH tarama, tedavi izlem, acil durum tedavi, psikososyal destek

References

  • 1. Ishii T, Kashimada K, Amano N, Takasawa K, Nakamura-Utsunomiya A, Yatsuga S, et al. Clinical guideli-nes for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision). Clin Pediatr Endocrinol. 2022;31:116-143. google scholar
  • 2. Parsa AA, New MI. Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia. J Steroid Bioc-hem Mol Biol. 2017;165:2-11. google scholar
  • 3. Bulsari K, Falhammar H. Clinical perspectives in congenital adrenal hyperplasia due to 11p-hydroxylase deficiency. Endocrine. 2017;55:19-36. google scholar
  • 4. Claahsen-van der Grinten HL, Speiser PW, Faisal Ahmed S, Arlt W, Auchus RJ, Falhammar H, et al. Con-genital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management. Endocr Rev.2022;43:91-159. google scholar
  • 5. Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: An endocrine society* clinical practice guideline. J Clin Endoc-rinol Metab. 2018;103:4043-88. google scholar
  • 6. Merke DP, Auchus RJ. Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. N Engl J Med. 2020;383:13-6. google scholar
  • 7. Güran T, Tezel B, Çakır M, Akıncı A, Orbak Z, Keskin M, et al. Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants. J Clin Res Pediatr Endoc-rinol. 2020;12:287-94. google scholar
  • 8. Nordenström A, Falhammar H. MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and ma-nagement of the patient with non-classic CAH due to 21-hydroxylase deficiency. Eur J Endocrinol. 2019;180:R127-45. google scholar
  • 9. Yoo BK, Grosse SD. The cost effectiveness of screening newborns for congenital adrenal hyperplasia. Public Health Genomics. 2009;12:67-72. google scholar
  • 10. Kazmi D, Bailey J, Yau M, Abu-Amer W, Kumar A, Low M, et al. New developments in prenatal diagnosis of congenital adrenal hyperplasia. J Steroid Biochem Mol Biol. 2017;165:121-3. google scholar
  • 11. Mallappa A, Merke DP. Management challenges and therapeutic advances in congenital adrenal hyperp-lasia. Nat Rev Endocrinol. 2022;18(6):337. google scholar
  • 12. Yildiz M, Bayram A, Bas F, Karaman V, Toksoy G, Poyrazoglu S, et al. Ovarian and paraovarian adrenal rest tumors are not uncommon in gonadectomy materials of historical congenital adrenal hyperplasia cases in childhood. Eur J Endocrinol. 2022;187:K13-8. google scholar
  • 13. Aycan Z, Baş VN, Cetinkaya S, Yilmaz Agladioglu S, Tiryaki T. Prevalence and long-term follow-up outcomes of testicular adrenal rest tumours in children and adolescent males with congenital adrenal hyperplasia. Clin Endocrinol (Oxf). 2013;78:667-72. google scholar
  • 14. Merke DP, Poppas DP. Management of adolescents with congenital adrenal hyperplasia. lancet Diabetes Endocrinol. 2013;1:341-52. google scholar
  • 15. Nordenström A, Lajic S, Falhammar H. Clinical outcomes in 21-hydroxylase deficiency. Curr Opin En-docrinol Diabetes Obes. 2021;28:318-24. google scholar
  • 16. Kruse B, Riepe FG, Krone N, Bosinski HAG, Kloehn S, Partsch CJ, et al. Congenital adrenal hyperp-lasia - how to improve the transition from adolescence to adult life. Exp Clin Endocrinol Diabetes. 2004;112(7):343-55. google scholar
  • 17. Bachelot A. Transition of Care from Childhood to Adulthood: Congenital Adrenal Hyperplasia. Endocr Dev. 2018;33:17-33. google scholar
  • 18. Çocuk Endokrinolojisi ve Diyabet Derneği. Diabet Geçiş Formu. [Internet]. Erişim : https://www. cocukendokrindiyabet.org/uploads/dokumanlar/167OmW1aUQCxVqTkXgJL.pdf. Son erişim tarihi: 28.12.2022. google scholar
  • 19. Tamhane S, Rodriguez-Gutierrez R, Iqbal AM, Prokop LJ, Bancos I, Speiser PW, Murad MH. Cardiovascu-lar and Metabolic Outcomes in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis. J Clin Endocrinol Metab. 2018;103:4097-4103. google scholar
  • 20. Williams RM, Deeb A, Ong KK, Bich W, Murgatroyd PR, Hughes IA, Acerini CL. Insulin sensitivity and body composition in children with classical and nonclassical congenital adrenal hyperplasia. Clin Endoc-rinol (Oxf). 2010;72:155-60. google scholar
  • 21. Weiss M, Dörr HG, Brandmaier R, Schwarz HP, Belohradsky BH. Vaccine tolerance in steroid substituted patients with congenital adrenal hyperplasia. Eur J Med Res. 1997;2:290-2. google scholar
  • 22. Ali SR, Bryce J, Krone NP, Claahsen-van der Grinten HL, Ahmed SF. Management of Acute Adrenal Insufficiency-Related Adverse Events in Children with Congenital Adrenal Hyperplasia: Results of an International Survey of Specialist Centres. Horm Res Paediatr. 2022;95:363-373. google scholar
  • 23. From the CDC. Recommendations of the Immunization Practices Advisory Committee (ACIP). General recommendations on immunization. J Am Osteopath Assoc. 1989; 89:1191, 1196, 1199 passim. google scholar
  • 24. “Çocuk ve Ergen İçin Kronik Hastalıklarda Fiziksel Aktivite Rehberi” Halk Sağlığı Genel Müdürlüğü, 1089, Ankara 2018”. google scholar
  • 25. Improda N, Barbieri F, Ciccarelli GP, Capalbo D, Salerno M. Cardiovascular Health in Children and Adolescents With Congenital Adrenal Hyperplasia Due to 21-Hydroxilase Deficiency. Front Endocrinol (Lausanne). 2019;10:212. google scholar
  • 26. Fleming L, Van Riper M, Knafl K. Management of Childhood Congenital Adrenal Hyperplasia-An Integ-rative Review of the Literature. J Pediatr Health Care. 2017;31:560-577. google scholar
  • 27. Weise M, Mehlinger SL, Drinkard B, Rawson E, Charmandari E, Hiroi M, Eisenhofer G, Yanovski JA, Chrousos GP, Merke DP. Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glucose elevation in response to high-intensity exercise. J Clin Endocrinol Metab. 2004;89:591-7. google scholar
  • 28. Yau M, Vogiatzi M, Lewkowitz-Shpuntoff A, Nimkarn S, Lin-Su K. Health-Related Quality of Life in Children with Congenital Adrenal Hyperplasia. Horm Res Paediatr. 2015;84:165-71. google scholar
  • 29. Sanches SA, Wiegers TA, Otten BJ, Claahsen-van der Grinten HL. Physical, social and societal functio-ning of children with congenital adrenal hyperplasia (CAH) and their parents, in a Dutch population. Int J Pediatr Endocrinol. 2012;2012(1):2. google scholar
  • 30. Çocuk Endokrinolojisi ve Diyabet Derneği. Aile rehberleri.konjenital adrenal hiperplazi. 2022 [Internet]. Erişim: http://www.cocukendokrindiyabet.org/icerik/459. Son erişim tarihi: 28.12.2022. google scholar
  • 31. Çocuk Endokrinolojisi ve Diyabet Derneği. Adrenal Yetmezlik KAH Steroid Kullanımı Acil Kart [Internet]. Erişim: http://www.cocukendokrindiyabet.org/uploads/dokumanlar/167OmW1aUQCxVqTkXgJL.pdf. Son erişim tarihi: 28.12.2022. google scholar
  • 32. Nadir hastalıklar [Internet].Erişim: https://www.nadirhastaliklaragi.org.tr/. Son erişim tarihi: 28.12.2022 google scholar
  • 33. Rushworth RL, Torpy DJ, Falhammar H. Adrenal crisis. N Engl J Med. 2019;381:852-61. google scholar
  • 34. Cools M, Nordenström A, Robeva R, Hall J, Flück C, Köhler B, et al. Caring for individuals with a diffe-rence of sex development (DSD): a Consensus Statement. Nat Rev Endocrinol. 2018;14:415-29. google scholar
  • 35. Choi JH, Yoo HW. Management issues of congenital adrenal hyperplasia during the transition from pedi-atric to adult care. Korean J Pediatr. 2017;60:31-37. google scholar


SHARE




Istanbul University Press aims to contribute to the dissemination of ever growing scientific knowledge through publication of high quality scientific journals and books in accordance with the international publishing standards and ethics. Istanbul University Press follows an open access, non-commercial, scholarly publishing.