Diazoxide-Resistant Focal Hyperinsulinism Due To Kir6.2 Deficiency

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

KCNJ11, ABCC8, GCK, FOXA2, HADH, HNF4A, GLUD1, HNF1A, INSR, UCP2, SLC16A1, MEN1, PDX1, NEUROD1, CDKN1A, PAX4, INS, KLF11, MPI, BLK, CEL, CDKN2C, CDKN1B, MAFA, CDKN2B, APPL1, SST, GCG, MTOR, NSD1

KCNJ11, ABCC8, GCK, FOXA2, HADH, HNF4A, GLUD1, HNF1A, INSR, UCP2, SLC16A1, MEN1, PDX1, NEUROD1, CDKN1A, PAX4, INS, KLF11, MPI, BLK, CEL, CDKN2C, CDKN1B, MAFA, CDKN2B, APPL1, SST, GCG, MTOR, NSD1, PGM1, HAO2, MAP4K3, PDHX, KDM6A, MCTS1, IQGAP1, NES, CIB2, FGF21, MED25, SAR1A, HAO1, MCAT, NHS, TRPC4, GLP1R, CDKN1C, CMA1, DDC, DPP4, EHHADH, EMP1, HSD17B10, SKIL, HRAS, IGF1, LEP, PCNA, PMM2, RIT2, IH

Drugs

Dasiglucagon, Exendin-(9-39), Glucagon

Dasiglucagon, Exendin-(9-39), Glucagon, Glucagon analogue linked to a human immunoglobulin Fc fragment, Glucagon infusion, Recombinant human monoclonal antibody to insulin receptor

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A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic bêta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.