Durmaz Erdem, Flanagan Sarah E, Parlak Mesut, Ellard Sian, Akcurin Sema, Bircan Iffet
Mersin State Hospital, Department of Pediatric Endocrinology, Mersin, Turkey. E-mail:
J Clin Res Pediatr Endocrinol. 2014;6(2):119-21. doi: 10.4274/Jcrpe.1230.
Hyperinsulinemic hypoglycemia (HH) is the commonest cause of persistent hypoglycemia in the neonatal and infancy periods. Mutations in the ABCC8 and KCNJ11 genes, which encode subunits of the ATP-sensitive potassium channel in the pancreatic beta cell, are identified in approximately 50% of these patients. The first-line drug in the treatment of HH is diazoxide. Octreotide and glucagon can be used in patients who show no response to diazoxide. Nifedipine, a calcium-channel blocker, has been shown to be an effective treatment in a small number of patients with diazoxide-unresponsive HH. We report a HH patient with a homozygous ABCC8 mutation (p.W1339X) who underwent a near-total pancreatectomy at 2 months of age due to a lack of response to diazoxide and octreotide treatment. Severe hypoglycemic attacks continued following surgery, while the patient was being treated with octreotide. These attacks resolved when nifedipine was introduced. Whilst our patient responded well to nifedipine, the dosage could not be increased to 0.75 mg/kg/day due to development of hypotension, a reported side effect of this drug. Currently, our patient, now aged 4 years, is receiving a combination of nifedipine and octreotide treatment. He is under good control and shows no side effects. In conclusion, nifedipine treatment can be started in patients with HH who show a poor response to diazoxide and octreotide treatment.
高胰岛素血症性低血糖症（HH）是新生儿期和婴儿期持续性低血糖最常见的原因。在这些患者中，约50%可检测到ABCC8和KCNJ11基因的突变，这两个基因编码胰腺β细胞中ATP敏感性钾通道的亚基。HH治疗的一线药物是二氮嗪。奥曲肽和胰高血糖素可用于对二氮嗪无反应的患者。硝苯地平，一种钙通道阻滞剂，已被证明对少数二氮嗪无反应的HH患者是一种有效的治疗方法。我们报告了一名患有纯合子ABCC8突变（p.W1339X）的HH患者，该患者因对二氮嗪和奥曲肽治疗无反应，在2个月大时接受了近全胰腺切除术。术后，患者在接受奥曲肽治疗时仍持续发生严重低血糖发作。引入硝苯地平后，这些发作得到缓解。虽然我们的患者对硝苯地平反应良好，但由于该药物的副作用——低血压的出现，剂量无法增加到0.75mg/kg/天。目前，我们这名4岁的患者正在接受硝苯地平和奥曲肽联合治疗。他的病情得到了很好的控制，且未出现副作用。总之，对于对二氮嗪和奥曲肽治疗反应不佳的HH患者，可以开始使用硝苯地平治疗。
