Korula Sophy, Chapla Aaron, Priyambada Leena, Mathai Sarah, Simon Anna
Paediatric Endocrinology and Metabolism, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
Molecular Genetics Lab, Department of Endocrinology, Diabetes and Metabolism, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
J Pediatr Endocrinol Metab. 2018 Jan 26;31(1):87-89. doi: 10.1515/jpem-2017-0238.
Congenital hyperinsulinism results in refractory hypoglycemia. If a therapy with diazoxide has been unresponsive this has been treated by subtotal pancreatectomy in the past. This therapeutic option poses an increased risk of developing diabetes at a later stage. There have been a few case reports on the use of sirolimus in such situations in the recent past.
Our patient was started on sirolimus very early, on day 29 of life and at the age of 14 months is doing well on sirolimus therapy. His growth and development have been good and he has not had any major complications so far. Genetic testing showed a novel KCNJ11 homozygous mutation on next generation sequencing and the parents were heterozygous carriers.
We report the successful use of sirolimus in the management of diazoxide unresponsive congenital hyperinsulinism with diffuse pancreatic involvement. We believe this is the youngest patient to be initiated on sirolimus so far.
先天性高胰岛素血症会导致难治性低血糖。如果二氮嗪治疗无效，过去曾通过胰腺次全切除术进行治疗。这种治疗选择会增加后期患糖尿病的风险。最近有一些关于在这种情况下使用西罗莫司的病例报告。
我们的患者在出生第29天就很早就开始使用西罗莫司，14个月大时西罗莫司治疗效果良好。他的生长发育良好，到目前为止没有出现任何重大并发症。基因检测显示下一代测序中有一个新的KCNJ11纯合突变，父母为杂合携带者。
我们报告了西罗莫司成功用于治疗对二氮嗪无反应的弥漫性胰腺受累先天性高胰岛素血症。我们认为这是迄今为止开始使用西罗莫司的最年轻患者。
