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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Monogenic forms of hyperinsulinism[1-9]

Monogenic forms of hyperinsulinism[1-9]
Type Gene Locus Inheritance Diazoxide-responsive Features
KATP-HI[1-2] ABCC8, KCNJ11 11p15 Recessive, biallelic No

Diffuse histology

LGA, protein-induced hypoglycemia, high GIR requirement
Recessive, monoallelic* No

Focal histology

Protein-induced hypoglycemia, approximately 50% LGA, moderate-high GIR requirement
Dominant No

Diffuse histology

Clinically indistinguishable from recessive forms
Dominant Yes

Diffuse histology

Milder phenotype with less severe hypoglycemia, lower GIR requirement, protein-induced hypoglycemia
GDH-HI[3] GLUD1 10q23 Dominant, de novo Yes Protein-induced hypoglycemia, elevated ammonia, seizures, learning disabilities
GCK-HI[4] GCK 7p13 Dominant, de novo Variable Wide spectrum of severity and age at presentation
HNF4A-HI[5] HNF4A 20q13 Dominant Yes LGA, risk for diabetes in adolescence or adulthood
HNF1A-HI[6] HNF1A 12q24 Dominant Yes Risk for diabetes in adolescence or adulthood
SCHAD-HI[7] HADH 4q25 Recessive Yes Protein-induced hypoglycemia, abnormal acylcarnitine profile and urine organic acids
UCP2-HI[8] UCP2 11q13 Dominant Yes Mild hypoglycemia
MCT1-HI[9] SCL16A1 1p13 Dominant Variable Hypoglycemia in response to anaerobic exercise
HK1-HI[10] HK1 10q22 Dominant Variable Normal birth weight

KATP: adenosine triphosphate-sensitive potassium channel; HI: hyperinsulinism; LGA: large for gestational age; GIR: glucose infusion rate; GDH: glutamate dehydrogenase-related hyperinsulinism; GCK: glucokinase; HNF4A: hepatocyte nuclear factor 4-alpha; HNF1A: hepatocyte nuclear factor 1-alpha; SCHAD: short-chain 3-hydroxyacyl-CoA dehydrogenase; HADH: 3-hydroxyacyl-coenzyme A dehydrogenase; UCP2: uncoupling protein 2; MCT1: monocarboxylic acid transporter 1.

* Paternally inherited recessive mutation with somatic loss of maternal 11p15 region, resulting in paternal isodisomy.
References:
  1. Thomas PM, Cote GJ, Wohllk N, et al. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 1995; 268:426.
  2. Thomas P, Ye Y, Lightner E. Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Human molecular genetics 1996; 5:1809.
  3. Stanley CA, Lieu YK, Hsu BY, et al. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med 1998; 338:1352.
  4. Glaser B, Kesavan P, Heyman M, et al. Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med 1998; 338:226.
  5. Pearson ER, Boj SF, Steele AM, et al. Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene. PLoS Medicine 2007; 4:e118.
  6. Stanescu DE, Hughes N, Kaplan B, et al. Novel Presentations of Congenital Hyperinsulinism due to Mutations in the MODY genes: HNF1A and HNF4A. J Clin Endocrinol Metab 2012; 97:E2026.
  7. Li C, Chen P, Palladino A, et al. Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. J Biol Chem 2010; 285:31806.
  8. González-Barroso MM, Giurgea I, Bouillaud F, et al. Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion. PLoS ONE 2008; 3:e3850.
  9. Meissner T, Otonkoski T, Feneberg R, et al. Exercise induced hypoglycaemic hyperinsulinism. Arch Dis Child 2001; 84:254.
  10. Wakeling MN, Owens NDL, Hopkinson JR, et al. Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism. Nat Genet 2022; 54:1615.
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