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Ожирение и метаболизм

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Синдром ROHHADNET

https://doi.org/10.14341/2071-8713-4839

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Аннотация

Стремительное ожирение, сочетающееся с гиповентиляцией, гипоталамической дисрегуляцией, электролитными
нарушениями в виде гипер- или гипонатриемии, патологией вегетативной нервной системы и невральными опухолями -
симптомокомплекс, недавно описанный как синдром ROHHADNET, вызывающий кардиореспираторные кризы с возмож-
ным летальным исходом. Синдром ROHHADNET имитирует множество эндокринных заболеваний и генетических форм
ожирения раннего возраста и может проявляться различными вариантами дисфункции гипоталамо-гипофизарной системы.
В статье представлено описание клинического случая синдрома ROHHADNET.

Список литературы

1. Batista D.L., Riar J., Keil M., Stratakis C.A. Diagnostic tests for children who are referred for the investigation of Cushing syndrome // Pediatr. - 2007. - № 120. - е575-е586.

2. Bougneres P., Pantalone L., Linglart A., Rothenbuhler A., Le Stunff C. Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor syndrome in childhood // J Clin Endocrinol Metab. - 2008. - № 93. - Р. 3971-3980.

3. De Simone M., Farello G., Palumbo M., Gentile T., Giuffreda M., Olioso P., Cinque M., De Matteis F. Growth charts, growth velocity and bone development in childhood obesity // Int J Obes Relat Metab Disord. - 1995. - № 19. - Р. 851-857.

4. Dos Santos C., Fallin D., Le Stunff C., LeFur S., Bougneres P. INS VNTR is a QTL for the insulin response to oral glucose in obese children // Physiol Genomics. - 2004. - № 16. - Р. 309-313.

5. Falorni A., Bini V., Cabiati G., Papi F., Arzano S., Celi F., Sanasi M. Serum levels of type I procollagen C-terminal propeptide, insulin-like growth factor-I (IGF-I), and IGF binding protein-3 in obese children and adolescents: relationship to gender, pubertal development, growth, insulin, and nutritional status // Metabolism. - 1997. - № 46. - Р. 862-871.

6. Geoerger B., Hero B., Harms D., Grebe J., Scheidhauer K., Berthold F. Metabolic activity and clinical features of primary ganglioneuromas // Cancer. - 2001. - № 91. - Р. 1905-1913.

7. Gothi D., Joshi J.M. Late onset hypoventilation syndrome: is there a spectrum of idiopathic hypoventilation syndromes? // Indian J Chest Dis Allied Sci. - 2005. - № 47. - Р. 293-297.

8. Goto S., Umehara S., Gerbing R.B., Stram D.O., Brodeur G.M., Seeger R.C., Lukens J.N., Matthay K.K., Shimada H. Histopathology (international Neuroblastoma Pathology Classification) and MYCN status in patients with peripheral neuroblastic tumors: a report from the Children's Canser Group // Cancer. - 2001. - № 92. - Р. 2699-708.

9. Gunther D.F., Bourdeau I., Matyakhina L., Cassarino D., Kleiner D.E., Griffin K., Courkoutsakis N., Abu-Asab M., Tsokos M., Keil M., Carney J.A., Stratakis C.A. Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity? // J Clin Endocrinol Metab. - 2004. - № 89. - Р. 3173-3182.

10. Ize-Ludlow D., Gray J.A., Sperling M.A., Berry-Kravis E.M., Milunsky J.M., Farooqi I.S., Rand C.M., Weese-Mayer D.E. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood // Pediatrics. - 2007. - № 120. - e179-e188.

11. Johnson G.L., Hruban R.H., Marshall F.F., Fishman E.K. Primary adrenal ganglioneuroma: CT findings in four patients // AJR Am Roentgenol. - 1997. - № 169. - Р. 169-171.

12. Katz E.S., McGrath S., Marcus C.L. Late-onset central hypoventilation with hypothalamic dysfunction: a distinct clinical syndrome // Pediatr Pulmonol. - 2000. - № 29. - Р. 62-68.

13. Lonergan G.L., Schwab C.M., Suarez E.S., Carlson C.L. Neuroblastoma, ganglioneuroblastoma, and ganglionevroma: radiologic-pathologic correlation // Radiographics. - 2002. - № 22. - Р. 911-934.

14. Montague C.T., Farooqi I.S., Whitehead J.P., Soos M.A., Rau H., Wareham N.J., Sewter C.P., Digby J.E., Mohammed S.N., Hurst J.A., Cheetham C.H., Earley A.R., Barnett A.H., Prins J.B., O'Rahilly S. Congenital leptin deficiency is associated with severe early-onset obesity in humans // Nature. - 1997. - № 387. - Р. 903-908.

15. North K.N., Ouvrier R.A., McLean C.A., Hopkins I.J. Idiopathic hypothalamic dysfunction with dilated unresponsive pupils: report of two cases // J Child Neurol. - 1994. - № 9. - Р. 320-325.

16. O'Rahilly S., Farooqi I.S. Genetics of obesity // Philos Trans R Soc Lond B Biol Sci. - 2006. - № 361. - Р. 1095-1105.

17. Ozata M., Ozdemir I.C., Licinio J. 1999 Human leptin deficiency caused by a missense mutation: multiple endocrine defects, decreased symphathetic tone, and immune system dysfunction indicate new targets for leptin action, greater central than peripheral resistance to the effects of leptin, and spontaneous correction of leptin-mediated defects // J Clin Endocrinol Metab. - 2000. - № 85:416. - Р. 843686-3695.

18. Reiter E.O. Normal and aberrant growth / In: Larsen P.R., Kronenberg H.M., Melmed S., Polonsky K.S., eds. Williams textbook of endocrinology. 10th ed. Philadelphia: Saunders. - 2003.

19. Scherer A., Niehues T., Engelbrecht V., Modder U. Imaging diagnosis of retroperitoneal ganglioneuroma in childhood // Pediatr Radiol. - 2001. - № 31. - Р. 106-110.

20. Sirvent N., Berard E., Chastagner P., Feillet F., Wagner K., Sommelet D. Hypothalamic dysfunction assotiated with neuroblastoma: evidence for a new Paraneoplastic syndrome? // Med Pediatr Oncol. - 2003. - № 40. - Р. 326-328.

21. Weese-Mayer D.E., Silvestri J.M., Huffman A.D., Smok-Pearsall S.M., Kowal M.H., Maher B.S., Cooper M.E., Marazita M.L. Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome // Am J Med Genet. - 2001. - № 100. - Р. 237-245.


Для цитирования:


Kareva M.A., Zhurtova I.B., Orlova E.M., Shiryaeva L.I. Синдром ROHHADNET. Ожирение и метаболизм. 2011;8(3):61-66. https://doi.org/10.14341/2071-8713-4839

For citation:


., ., ., . Sindrom ROHHADNET. Obesity and metabolism. 2011;8(3):61-66. (In Russ.) https://doi.org/10.14341/2071-8713-4839

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ISSN 2071-8713 (Print)
ISSN 2306-5524 (Online)