Саратовский научно-медицинский ЖУРНАЛ

ROHHAD-синдром

Год: 2019, том 15 Номер: №3 Страницы: 601-606
Рубрика: Педиатрия Тип статьи: Обзор
Авторы: Пушко Л.В., Гутырчик Т.А., Овсянников Д.Ю., Петрова Н.А., Тетеркина А.О., Гутырчик Н.А., Меньшиков Д.Д.
Организация: ФГБУ «Национальный медицинский исследовательский центр им. В. А. Алмазова» Министерства здравоохранения РФ, ФГАОУ ВО «Российский университет дружбы народов», ГБУЗ «Морозовская детская городская клиническая больница ДЗМ»
Резюме:

Обзор литературы посвящен редкому варианту гиповентиляции, зависимой от сна, у детей — центральной гиповентиляции с поздним началом и гипоталамической дисфункцией, ROHHAD-синдрому (англ.: быстро прогрессирующее ожирение (Rapid-onset Obesity) с гипоталамической дисрегуляцией (Hypothalamic), гиповен- тиляцией (Hypoventilation) и автономной (вегетативной) дисфункцией (Autonomic Disregulation). Диагностика и ведение пациентов с данным синдромом требует мультидисциплинарного подхода команды специалистов. На основании современных данных представлены вопросы клинической и лабораторно-инструментальной диагностики заболевания, возможные этиологические факторы, диагностические критерии и частота симптомов, подходы к терапии и прогноз.

Ключевые слова: ROHHAD-синдром

Литература:
1. Barclay SF, Rand CM, Borch LA. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours. Orphanet Journal of Rare Diseases 2015; 10(1): 103.
2. Bougneres P, Pantalone L, Linglart A, et al. Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation and neural tumor syndrome in childhood. Journal of Clinical Endocrinology and Metabolism 2008; 93: 3971-80.
3. Repetto GM, Corrales RJ, Abara SG, et al. Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. Acta Paediatrica, International Journal of Pediatrics 2009; 98: 192-5.
4. Erensoy H, Ceylan ME, Evrensel A. Psychiatric symptoms in rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome and its treatment: a case report. Chinese Medical Journal 2016; 129 (2): 242-3.
5. Kot К, Moszczynska E, Lecka-Ambroziak A, et al. ROHHAD in a 9-year-old boy: clinical case. Endokrynologia Polska 2016; 67 (2): 226-31.
6. Sanklecha M, Sundaresan S, Udani V. ROHHAD syndrome: the girl who forgets to breathe. Indian Pediatrics 2016; 53 (4): 343-4.
7. Weese-Mayer DE, Rand CM, Ize-Ludlow D. Commentary: rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): remember your ABCs (airway, breathing, circulation). Journal of the Canadian Academy of Child and Adolescent Psychiatry 2013; 22 (3): 238-9.
8. Severinghaus J, Mitchell R. Ondine's curse — failure of respiratory center automaticity while awake. Clin Res 1962; 10: 122.
9. Amiel J, Laudier B, Attie-Bitach T, et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nature genetics 2003; 33: 459-61.
10. Gallego J, Dauger S. PHOX2B mutations and ventilatory control. Respir Physiol Neurobiol 2008; 164: 49-54.
11. Aljabban L, Kassab. L, Bakoura NA, et al. Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumor syndrome with a homogenous enlargement of the pituitary gland: a case report. Journal of Medical Case Reports 2016; 10 (1): 93-101.
12. Goykhman A, Fitch J, Tobias JD. Perioperative Care of a Child with ROHHADNET Syndrome. Journal of Medical Case Reports 2013; 4 (11): 710-14.
13. Abaci A, Catli G, Bayram E, et al. A case of rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neural crest tumor: ROHHADNET syndrome. Endocrine Practice 2012; 19 (1): 12-6.
14. Al-Harbi AS, Al-Shamrani A, Al-Shawwa BA. Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation in Saudi Arabia. Saudi Medical Journal 2016; 37 (11): 1258-60.
15. Ibanez-Mico S, Marcos Oltra AM, de Murcia Lemauviel S, et al. Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD syndrome): A case report and literature review. Neurologia 2017; 32 (9): 616-22.
16. Reppucci D, Hamilton J, Yeh EA, et al. ROHHAD syndrome and evolution of sleep disordered breathing. Orphanet Journal of Rare Diseases 2016; 11 (1): 106.
17. Patwari PP, Wolfe LF. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: review and update. Current Opinion in Pediatrics 2014; 26 (4): 487-92.
18. Hirasawa R, Feil R. Genomic imprinting and human disease. Essays in Biochemistry 2010; 48: 187-200.
19. Thor KB, Blitz-Siebert A, Helke CJ. Autoradiographic localization of 5HT1 binding sites in the medulla oblongata of the rat. Synapse 1992; 10: 185-205.
20. Yadav VK, Oury F, Suda N, etal.Aserotonin-dependent mechanism explains the leptin regulation of bone mass, appetite, and energy expenditure. Cell 2009; 138 (5): 976-89.
21. Bardet SM, Martinez-de-la-Torre M, Northcutt RG, et al. Conserved pattern of OTP-positive cells in the paraventricular nucleus and other hypothalamic sites of tetrapods. Brain Research Bulletin 2008; 75: 231-5.
22. Cummings KJ, Willie C, Wlson RJ. Pituitary adenylate cyclase-activating polypeptide maintains neonatal breathing but not metabolism during mild reductions in ambient temperature. American journal of physiology regulatory, integrative and comparative physiology 2008; 294: 956-65.
23. De Pontual L, Trochet D, Caillat-Zucman S, et al. Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome. Pediatric Research 2008; 64 (6): 689-94.
24. Onal H, Ersen A. A case of late-onset central hypoventilation syndrome with hypothalamic dysfunction: through a new phenotype. The Turkish Journal of Pediatrics 2010; 52 (2): 198-202.
25. Barclay SF, Rand CM, Nguyen L, et al. ROHHAD and Prader-Wlli syndrome (PWS): clinical and genetic comparison. Orphanet Journal of Rare Diseases 2018; 13: 124.
26. Ouvrier R, Nunn K, Sprague T, et al. Idiopathic hypothalamic dysfunction: A paraneoplastic syndrome? Lancet 1995; 346: 1298.
27. Paz-Priel I, Cooke DW, Chen AR. Cyclophosphamide for rapid-onset obesity, hypothalamicdysfunction, hypoventilation, and autonomic dysregulation syndrome. Journal Pediatrics 2011; 158 (2): 337-9.
28. Sirvent N, Berard E, Chastagner P, et al. Hypothalamic dysfunction associated with neuroblastoma: Evidence for a new Paraneoplastic syndrome? Medical and Pediatric Oncology 2003; 40: 326-8.
29. Dhondt K, Verloo P, Van Coster R, Overeem S. Hypocretin-1 deficiency in a girl with ROHHAD syndrome. Pediatrics 2013; 132 (3): 788-92.
30. Ize-Ludlow D, Gray JA, Sperling MA, et al. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. Pediatrics 2007; 120(1):e179-e188.
31. Lee JM, Shin J, Kim S, et al. Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review. Biomed Res Int 2018 Nov 21; 2018:1250721.
32. Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation. URL: https:// rarediseases.org/rare-diseases/rapid-onset-obesity-with-hypothalamic-dysfunction-hypoventilation-and-autonomic-dysregulation/(flaia обращения: 21.06.2019).
33. Пальчик А.Б., Калашникова Т.П., Понятишин А. Е. и др. Сон и его расстройства у детей. М.: Мед-пресс-информ, 2018; 256 с.

Прикрепленный файлРазмер
2019_03_601-606.pdf317.78 кб

Голосов пока нет