Autosomal Dominant 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 form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).