A clinical case of congenital hyperinsulinism in an early child
S. B. Berezhansky,
A. A. Afonin,
E. A. Papsheva,
N. N. Vostrykh,
G. A. Galkina,
D. I. Sozaeva,
E. A. Lukyanova https://doi.org/10.21886/2219-8075-2020-11-3-54-59
Abstract
A clinical case of congenital hyperinsulinism, diffuse form, pharmacoresistant course (heterozygous mutation of p. 1361 1363 dup CGG in the GCK gene) in an early child is presented as an example of an orphan severe disease with an extremely unfavorable course and a probability of deterioration of the long-term prognosis. The goal was to highlight the clinical manifestations, course options, and complexity of treatment of this pathology to a wide range of doctors of different specialties in the field of Pediatrics in terms of improving the quality and timeliness of diagnosis, reducing the number of complications with the formation of irreparable consequences. Attention is drawn to the most severe course of hypoglycemic conditions in the early neonatal period, the dependence of the formation of a pronounced neurological deficit on the degree and duration of hypoglycemia, which emphasizes the importance of their timely correction to preserve the quality of life of this contingent of children.
About the Authors
S. B. Berezhansky
Rostov State Medical University
Sofia B. Berezhanskaya, Dr. Sci. (Med.), Professor, chief research officer of the pediatric Department
Rostov-on-Don
A. A. Afonin
Rostov State Medical University
Alexander A. Afonin, Dr. Sci. (Med.), Professor, chief research officer of the pediatric Department
Rostov-on-Don
E. A. Papsheva
Rostov State Medical University
Elena A. Papsheva, pediatrician, pediatric Department No. 2, Rostov State Medical University
Rostov-on-Don
N. N. Vostrykh
Rostov State Medical University
Russian Federation
Russian Federation
Natalia N. Vostrykh, Cand. Sci. (Med.), Manager, pediatric Department No. 2
Rostov-on-Don
G. A. Galkina
Rostov State Medical University
Galina A. Galkina, Dr. Sci. (Med.), Manager, Department of endocrinology
Rostov-on-Don
D. I. Sozaeva
Rostov State Medical University
Diana I. Sosayeva, Dr. Sci. (Med.), Associate Professor, research associate, Pediatric Department
Rostov-on-Don
E. A. Lukyanova
Rostov State Medical University
Elena A. Lukyanova, Cand. Sci. (Med.), Manager, pediatric Department No. 1
Rostov-on-Don
References
1. Shchederkina I.O., Melikyan M.A., Zavadenko A.N., Kozlova E.V., Zavadenko N.N. Neurological paroxysmal disorders in children with hypoglycemia in congenital hyperinsulinism: polymorphism of clinical implications. Epilepsy and paroxysmal conditions. 2015;7(2):49-58. (In Russ.) eLIBRARY ID: 24169991
2. Achoki R, Opiyo N, English M. Mini-review: Management of hypoglycaemia in children aged 0-59 months. JTropPediatr. 2010;56(4):227-234. https://doi.org/10.1093/tropej/fmp109
3. Boluyt N, van Kempen A, Offringa M. Neurodevelopment After Neonatal Hypoglycemia: A Systematic Review and Design of an Optimal Future Study. Pediatrics. 2006;117(6):2231-2243. https://doi.org/10.1542/peds.2005-1919.
4. Ivanov D.O., Shabalov N.P., Petrenko Yu.V. Diagnostika i lechenie gipoglikemii novorozhdennykh. Klinicheskie rekomendatsii. Moscow; 2015. (In Russ.)
5. Auer RN, Siesjö BK. Hypoglycaemia: brain neurochemistry and neuropathology. Baillieres Clin Endocrinol Metab. 1993;7(3):611- 625. https://doi.org/10.1016/s0950-351x(05)80210-1
6. Melikyan M.A. Federal clinical practice guidelines on the diagnostics, treatment, and management of the children and adolescents presenting with congenital hyperinsulinism. Problemy endokrinologii. 2014;60(2):31-41. (In Russ.). https://doi.org/10.14341/probl201460231-41
7. McQuarrie I. Idiopathic spontaneously occurring hypoglycemia in infants: clinical significance of problem and treatment. AMA Am J Dis Child. 1954;87:399-428. https://doi.org/10.1001/archpedi.1954.02050090387001
8. De Leon DD, Stanley CA. Mechanisms of disease: advances in diagnosis and treatment of hyperinsulinism in neonates. Nat Clin Pract Endocrinol Metab. 2007;3:57-68. https://doi.org/10.1038/ncpendmet0368
9. Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R. et al. Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. J Am SocNephrol. 2017;28(8):2529-2539. https://doi.org/10.1681/asn.2016121312
10. Melikian M.A., Kareva M.A., Petriaĭkina E.E., Volkov I.É., Aver'ianova Iu.V., et al. Congenital hyperinsulinism. Results of molecular-genetic investigations in a Russian population. Problems of endocrinology. 2012;58(2):3-9. eLIBRARY ID: 21157203
11. Gubaeva D, Melikyan M, Vasiliev E, Petrov V, Tiulpakov A. Next Generation Sequencing Results in 142 Patients with Congenital Hyperinsulinism. Horm Res Paediatr. 2018;90(suppl 1):I–V:92.
12. Saint-Martin C, Arnoux J-B, de Lonlay P, Bellanne-Chantelot C. KATP channel mutations in congenital hyperinsulinism. Semin Pediatr Surg. 2011;20(1):18-22. https://doi.org/10.1053/j.sempedsurg.2010.10.012
13. James C, Kapoor RR, Ismail D. The genetic basis of congenital hyperinsulinism. J Med Genet. 2009;46:289-299. https://doi.org/10.1136/jmg.2008.064337
14. Stanley C, Lieu YK, Hsu BY, Burlina AB, Greenberg CR et al. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med. 1998;338:1352-1357. https://doi.org/10.1056/nejm199805073381904
15. González-Barroso MM, Giurgea I, Bouillaud F, Anedda A, Bellanné-Chantelot C, et al. Mutations in UCP2 in congenitalhyperinsulinism reveal a role for regulation of insulin secretion. PLoS One. 2008;3(12):e3850. https://doi.org/10.1371/journal.pone.0003850
16. Treglia G, Mirk P, Giordano A, Rufini V. Diagnostic performance of fluorine-18-dihydroxyphenylalanine positron emission tomography in diagnosing and localizing the focal form of congenital hyperinsulinism: a meta-analysis. PediatrRadiol. 2012;42:1372-1379. https://doi.org/10.1007/s00247-012-2459-2
Review
For citations:
Berezhansky S.B., Afonin A.A., Papsheva E.A., Vostrykh N.N., Galkina G.A., Sozaeva D.I., Lukyanova E.A. A clinical case of congenital hyperinsulinism in an early child. Medical Herald of the South of Russia. 2020;11(3):54-59. (In Russ.) https://doi.org/10.21886/2219-8075-2020-11-3-54-59
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