期刊
ORPHANET JOURNAL OF RARE DISEASES
卷 16, 期 1, 页码 -出版社
BMC
DOI: 10.1186/s13023-021-02088-6
关键词
Congenital hyperinsulinism (CHI); Hypoglycemia; Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism (SCHAD-HI); Hydroxyacyl-coenzyme A dehydrogenase (HADH) gene
资金
- Beijing Municipal Science & Technology Commission, Beijing Municipal Natural Science Foundation [7212034]
Congenital hyperinsulinism (CHI) is a major cause of persistent and recurrent hypoglycemia in infancy and childhood. KATP-HI is the most common and severe subtype, accounting for 40-50% of CHI cases, while SCHAD-HI is a rare subtype caused by homozygous mutations in the HADH gene, accounting for less than 1% of all CHI cases. This review provides a systematic description of the genetic pathogenesis and current progress in the diagnosis and treatment of SCHAD-HI.
Congenital hyperinsulinism (CHI), a major cause of persistent and recurrent hypoglycemia in infancy and childhood. Numerous pathogenic genes have been associated with 14 known genetic subtypes of CHI. Adenosine triphosphate-sensitive potassium channel hyperinsulinism (KATP-HI) is the most common and most severe subtype, accounting for 40-50% of CHI cases. Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism (SCHAD-HI) is a rare subtype that accounts for less than 1% of all CHI cases that are caused by homozygous mutations in the hydroxyacyl-coenzyme A dehydrogenase (HADH) gene. This review provided a systematic description of the genetic pathogenesis and current progress in the diagnosis and treatment of SCHAD-HI to improve our understanding of this disease.
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