General Paediatrics, Leeds Teaching Hospitals NHS Trust, Leeds, UK
General Paediatrics, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
BMJ Case Rep. 2021 Jun 22;14(6):e243077. doi: 10.1136/bcr-2021-243077.
A 35-month-old boy with non-mosaic Patau syndrome presented in diabetic ketoacidosis and was diagnosed with type 1 diabetes mellitus. A decision to treat this unanticipated medical problem was made in conjunction with the child's parent, and he improved with fluid resuscitation and insulin treatment. Acute kidney injury with hypernatraemia complicated his treatment, but this resolved with careful intravenous fluid management. The child survived and was followed up in the diabetes clinic where ongoing management was complicated by persistent fetal haemoglobin, which meant that glycated haemoglobin could not be used to gauge his glucose control.
一名 35 月龄的非嵌合型帕套综合征男童因糖尿病酮症酸中毒就诊，被诊断为 1 型糖尿病。结合患儿家长的意见，我们决定治疗这一意外的医疗问题，患儿经补液和胰岛素治疗后病情改善。急性肾损伤伴高钠血症使治疗变得复杂，但通过仔细的静脉输液管理，该并发症得以解决。患儿存活下来，并在糖尿病门诊接受随访。持续存在的胎儿血红蛋白使患儿的持续管理变得复杂，因为糖化血红蛋白不能用于评估其血糖控制情况。
