Una puesta al día fundamental | 22 JUN 21

Hiperinsulinismo congénito

Actualización sobre patogenia, diagnóstico y manejo del hiperinsulinismo congénito
Autor/a: Kathryn Sims NeoReviews 2021;22;e230
INDICE:  1. Texto principal | 2. Referencias bibliográficas
Referencias bibliográficas

 

1. Banerjee I, Salomon-Estebanez M, Shah P, Nicholson J, Cosgrove KE, Dunne MJ. Therapies and outcomes of congenital hyperinsulinism induced hypoglycaemia. Diabet Med. 2019;36(1):9–21

2. Vajravelu ME, De León DD. Genetic characteristics of patients with congenital hyperinsulinism. Curr Opin Pediatr. 2018;30(4):568–575

3. Aynsley-Green A, Hussain K, Hall J, et al. Practical management of hyperinsulinism in infancy. Arch Dis Child Fetal Neonatal Ed. 2000;82(2):F98–F107

4. Roženková K, Güemes M, Shah P, Hussain K. The diagnosis and management of hyperinsulinaemic hypoglycaemia. J Clin Res Pediatr Endocrinol. 2015;7(2):86–97

5. Dunne MJ, Cosgrove KE, Shepherd RM, Aynsley-Green A, Lindley KJ. Hyperinsulinism in infancy: from basic science to clinical disease. Physiol Rev. 2004;84(1):239–275

6. Demirbilek H, Hussain K. Congenital hyperinsulinism: diagnosis and treatment update. J Clin Res Pediatr Endocrinol. 2017; 9 (suppl 2): 69–87

7. James C, Kapoor RR, Ismail D, Hussain K. The genetic basis of congenital hyperinsulinism. J Med Genet. 2009;46(5):289–299

8. Giurgea I, Sempoux C, Bellanné-Chantelot C, et al. The Knudson’s two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism. J Clin Endocrinol Metab. 2006;91(10):4118–4123

9. de Lonlay P, Fournet JC, Rahier J, et al. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest. 1997;100(4):802–807

10. Hussain K, Flanagan SE, Smith VV, et al. An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism. Diabetes. 2008;57(1):259–263

11. Stanley CA. Perspective on the genetics and diagnosis of congenital hyperinsulinism disorders. J Clin Endocrinol Metab. 2016;101(3):815–826

12. Kapoor RR, Flanagan SE, Arya VB, Shield JP, Ellard S, Hussain K. Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. Eur J Endocrinol. 2013;168(4):557–564

13. Snider KE, Becker S, Boyajian L, et al. Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. J Clin Endocrinol Metab. 2013;98(2):E355–E363

14. Kalish JM, Boodhansingh KE, Bhatti TR, et al. Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. J Med Genet. 2016;53(1):53–61

15. De Leon DD, Stanley CA. Congenital hypoglycemia disorders: new aspects of etiology, diagnosis, treatment and outcomes: highlights of the proceedings of the congenital hypoglycemia disorders symposium, Philadelphia April 2016. Pediatr Diabetes. 2017;18(1):3–9

16. Gole H, Chuk R, Coman D. Persistent hyperinsulinism in Kabuki syndrome 2: case report and literature review. Clin Pract. 2016;6(3):848

17. Lucas A, Morley R, Cole TJ. Adverse neurodevelopmental outcome of moderate neonatal hypoglycaemia. BMJ. 1988;297(6659):1304–1308

18. Thornton PS, Stanley CA, De Leon DD, et al; Pediatric Endocrine Society. Recommendations from the Pediatric Endocrine Society for evaluation and management of persistent hypoglycemia

in neonates, infants, and children. J Pediatr. 2015;167(2): 238–245

19. Yorifuji T, Horikawa R, Hasegawa T, et al; (on behalf of The Japanese Society for Pediatric Endocrinology and The Japanese Society of Pediatric Surgeons). Clinical practice guidelines for

congenital hyperinsulinism. Clin Pediatr Endocrinol. 2017;26(3):127–152

20. Nessa A, Rahman SA, Hussain K. Hyperinsulinemic hypoglycemia - the molecular mechanisms. Front Endocrinol (Lausanne). 2016;7:29 [Lausanne]

21. Calabria AC, Li C, Gallagher PR, Stanley CA, De León DD. GLP-1 receptor antagonist exendin-(9-39) elevates fasting blood glucose levels in congenital hyperinsulinism owing to inactivating mutations in the ATP-sensitive Kþ channel. Diabetes. 2012;61(10):2585–2591

22. Ackermann AM, Palladino AA. Managing congenital hyperinsulinism: improving outcomes with a multidisciplinary approach. Res Rep Endocr Disord. 2015;5:103–117

23. Pagana KD, Pagana TJ, Pagana TN. Mosby’s Diagnostic and Laboratory Test Reference. 15th ed. Philadelphia: Elsevier Inc; 2020

 

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