Congenital hyperinsulinism

Congenital hyperinsulinism
Other namesCHI, familial hyperinsulinism, hyperinsulinemic hypoglycemia of infancy
Insulin (which this condition creates in excess)
SpecialtyPediatrics, gastroenterology, endocrinology Edit this on Wikidata
SymptomsHypoglycemia[1]
CausesABCC8 gene mutations (most common)[2]
Diagnostic methodBlood sample[3]
TreatmentDiazoxide, octreotide[4]

Congenital hyperinsulinism (HI or CHI) is a rare condition causing severe hypoglycemia (low blood sugar) in newborns due to the overproduction of insulin.[5] There are various causes of HI, some of which are known to be the result of a genetic mutation.[6] Sometimes HI occurs on its own (isolated) and more rarely associated with other medical conditions (as a syndrome).[7]

Congenital forms of hyperinsulinism can be transient (short-term) or persistent (long-term) and mild or severe. It can be the result of a defect in the entire pancreas (diffuse HI) or in just part of the pancreas (focal HI).[7] Irrespective of the form, cause, or type, HI is a medical emergency that must be managed from its onset.[8] There is no other hypoglycemic condition in the newborn period as dangerous as HI.[9] Left untreated, hypoglycemia from HI can cause developmental disorders, seizures, permanent brain damage, and even death.[10][11]

For those with focal HI, there is the potential for a cure with surgery.[12] For those with diffuse HI, diazoxide is the only approved medication to treat hypoglycemia. For those who do not respond to diazoxide, the condition is often managed with continuous carbohydrates delivered through a feeding pump and a gastrostomy tube, and off-label use of medications such as octreotide given by injection.[13][14] In the most severe cases, surgery may be necessary to remove most of the pancreas.[12] New and more effective treatments are in development for those who continue to have hypoglycemia on existing therapies and treatments, and for those who experience adverse effects of current treatments.[15]

The incidence of persistent HI has been found to range from 1:2,500 to 1:50,000 births depending on the region or country.[8] The incidence of transient forms of HI has been estimated to be between 1:1200[16] and 1:2000.[17]

  1. ^ "Familial hyperinsulinism | Genetic and Rare Diseases Information Center(GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 28 November 2020. Retrieved 28 November 2016.
  2. ^ Reference, Genetics Home. "congenital hyperinsulinism". Genetics Home Reference. Archived from the original on 2020-11-11. Retrieved 2016-10-07.
  3. ^ Hussain, K. (August 2005). "Congenital hyperinsulinism". Seminars in Fetal and Neonatal Medicine. 10 (4): 369–376. doi:10.1016/j.siny.2005.03.001. PMID 15916932.
  4. ^ Congenital Hyperinsulinism at eMedicine
  5. ^ Cite error: The named reference Banerjee Raskin Arnoux et al Congenital hyperinsulinism was invoked but never defined (see the help page).
  6. ^ Cite error: The named reference Banerjee Salomon‐Estebanez Shah et al Therapies and outcomes was invoked but never defined (see the help page).
  7. ^ a b Cite error: The named reference Rosenfeld Ganguly De Leon Congenital hyperinsulinism disorders was invoked but never defined (see the help page).
  8. ^ a b Arnoux, Jean-Baptiste; Verkarre, Virginie; Saint-Martin, Cécile; Montravers, Françoise; Brassier, Anaïs; Valayannopoulos, Vassili; Brunelle, Francis; Fournet, Jean-Christophe; Robert, Jean-Jacques; Aigrain, Yves; Bellanné-Chantelot, Christine; de Lonlay, Pascale (December 2011). "Congenital hyperinsulinism: current trends in diagnosis and therapy". Orphanet Journal of Rare Diseases. 6 (1): 63. doi:10.1186/1750-1172-6-63. PMC 3199232. PMID 21967988.
  9. ^ Thornton, Paul S. (August 2021). "Recent updates in the management of infants and children with hyperinsulinism". Current Opinion in Pediatrics. 33 (4): 424–429. doi:10.1097/MOP.0000000000001022. PMID 34001718. S2CID 234770858.
  10. ^ Cite error: The named reference Lord Radcliffe Gallagher et al High Risk of Diabetes was invoked but never defined (see the help page).
  11. ^ Cite error: The named reference Avatapalle Banerjee Shah et al Abnormal Neurodevelopmental was invoked but never defined (see the help page).
  12. ^ a b Adzick, N. Scott; De Leon, Diva D.; States, Lisa J.; Lord, Katherine; Bhatti, Tricia R.; Becker, Susan A.; Stanley, Charles A. (January 2019). "Surgical treatment of congenital hyperinsulinism: Results from 500 pancreatectomies in neonates and children". Journal of Pediatric Surgery. 54 (1): 27–32. doi:10.1016/j.jpedsurg.2018.10.030. PMC 6339589. PMID 30343978.
  13. ^ Yorifuji, Tohru (June 2014). "Congenital hyperinsulinism: current status and future perspectives". Annals of Pediatric Endocrinology & Metabolism. 19 (2): 57–68. doi:10.6065/apem.2014.19.2.57. PMC 4114053. PMID 25077087.
  14. ^ Yorifuji, Tohru; Horikawa, Reiko; Hasegawa, Tomonobu; Adachi, Masanori; Soneda, Shun; Minagawa, Masanori; Ida, Shinobu; Yonekura, Takeo; Kinoshita, Yoshiaki; Kanamori, Yutaka; Kitagawa, Hiroaki; Shinkai, Masato; Sasaki, Hideyuki; Nio, Masaki (2017). "Clinical practice guidelines for congenital hyperinsulinism". Clinical Pediatric Endocrinology. 26 (3): 127–152. doi:10.1297/cpe.26.127. PMC 5537210. PMID 28804205.
  15. ^ De Cosio, Ana Paola; Thornton, Paul (June 2019). "Current and Emerging Agents for the Treatment of Hypoglycemia in Patients with Congenital Hyperinsulinism". Pediatric Drugs. 21 (3): 123–136. doi:10.1007/s40272-019-00334-w. PMID 31218604. S2CID 195189412.
  16. ^ Gray, Keyaria D.; Dudash, Kathryn; Escobar, Carla; Freel, Colman; Harrison, Tylah; McMillan, Chandler; Puia-Dumitrescu, Mihai; Cotten, C. Michael; Benjamin, Robert; Clark, Reese H.; Benjamin, Daniel K.; Greenberg, Rachel G. (November 2018). "Prevalence and safety of diazoxide in the neonatal intensive care unit". Journal of Perinatology. 38 (11): 1496–1502. doi:10.1038/s41372-018-0218-4. PMC 6224295. PMID 30206345.
  17. ^ Cite error: The named reference Bailey Rout Harding et al Prolonged transitional neonatal was invoked but never defined (see the help page).