Smith V S, Giacoia G P
J Med Genet. 1985 Jun;22(3):228-30. doi: 10.1136/jmg.22.3.228.
An infant with mosaic trisomy 13, who was small for gestational age, became severely hypoglycaemic. For the first 19 days of life, glucose requirements to maintain normoglycaemia were high (up to 21.7 mg/kg/min) and at the same time the infant had high plasma insulin levels and low glucose insulin ratios. Treatment with hydrocortisone and susphrine was of questionable benefit. Hyperinsulinism abated by the third week of life. This case illustrates early remission of hyperinsulinaemic hypoglycaemia and raises the possibility of an association with trisomy 13.
一名患有13号染色体三体嵌合体的小于胎龄儿出现严重低血糖。在出生后的前19天,维持正常血糖所需的葡萄糖量很高(高达21.7毫克/千克/分钟),同时该婴儿血浆胰岛素水平高,葡萄糖胰岛素比值低。氢化可的松和肾上腺素治疗的益处存疑。高胰岛素血症在出生后第三周减轻。该病例说明了高胰岛素性低血糖的早期缓解,并增加了与13号染色体三体相关的可能性。