CONGENITAL HYPERINSULINISM IN A BABY WITH COFS SYNDROME


如何引用文章

全文:

开放存取 开放存取
受限制的访问 ##reader.subscriptionAccessGranted##
受限制的访问 订阅或者付费存取

详细

The paper gives the data available in the literature on congenital hyperinsulinism and a clinical case of a male infant within the first 1 month of life with hyperinsulinism in the presence of hypertrophy of the islets of Langerhans and cerebro-oculo-facio-skeletal syndrome. It discusses the genetic and clinical aspects of the disease and laboratory and morphological changes.

全文:

受限制的访问

作者简介

T. Taranushenko

Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University

Email: tetar@rambler.ru
Professor, MD

N. Kiseleva

Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University

Candidate of Medical Sciences

S. Ustinova

Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University

Candidate of Medical Sciences

O. Lazareva

Krasnoyarsk Territorial Clinical Center for Maternity and Infancy Care

Candidate of Medical Sciences

L. Karpova

Krasnoyarsk Territorial Clinical Center for Maternity and Infancy Care

N. Voronina

Krasnoyarsk Territorial Clinical Center for Maternity and Infancy Care

参考

  1. Меликян М.А. Врожденный гиперинсулинизм // Пробл. эндокринол. -2010; 6: 41-7.
  2. Меликян М.А., Петряйкина Е.Е., Фомина В.Л. и др. Врожденный гиперинсулинизм: диагностика и лечение // Педиатрия. - 2011; 90 (1): 59-65.
  3. Diva D., De Leon D., Charles A. Stanley Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates // Nature Clin. Pract. Endocrinol. Metab. - 2007; 3 (1): 57-68.
  4. Руководство по детской эндокринологии. Под ред. И.И. Дедова, В.А. Петерковой / М.: Универсум Паблишинг, 2006; 428-48.
  5. Руководство по детской эндокринологии. Под ред. Ч. Брука, Р. Браун. Пер. с англ. Под ред. В.А. Петерковой / М.: ГЭОТАР-Медиа, 2009; 226-35.
  6. Del Bigio M., Greenberg C., Rorke L. et al. Neuropathological findings in eight children with Cerebro-oculo-facio-skeletal (COFS) syndrome // J. Neuropathol. Exp. Neurol. - 1997; 56 (10): 1147-57.
  7. Mathur N., Alwadhi R., Pankaj Garg. Cerebro-Oculo-Facio-Skeletal Syndrome in a Neonate // Indian Pediatrics. - 2002; 39: 761-3.
  8. Paladini D., Armeinto M., Ardonino I. et al. Prenatal diagnosis of the Cerebro-oculo-facio-skeletal (COFS) syndrome // Ultrasound Obstet Gynecol. - 2000; 16: 91-3.
  9. Губергриц Н.Б., Фоменко П.Г., Колкина В.Я. Внешнесекреторная недостаточность поджелудочной железы при сахарном диабете // Рос. журн. гастроэнтерол., гепатол., колопроктол. - 2009; 19 (5): 61-7.
  10. Von der Ohe M., Layer P., Wollny C. et al. Somatostatin 28 and coupling of human interdigestive intestinal motility and pancreatic secretion // Gastroenterology. - 1992; 103: 974-82.
  11. Ferrer R., Medrano J., Diego M. et al. Effect of exogenous insulin and glucagon on exocrine pancreatic secretion in rats in vivo // Int. J. Pancreatol. - 2000; 28: 67-75.

补充文件

附件文件
动作
1. JATS XML
下载

版权所有 © Russkiy Vrach Publishing House, 2016
##common.cookie##