Nieves-Rivera Francisco, González-Pijem Lilliam
Department of Pediatrics, School of Medicine, University of Puerto Rico Medical Sciences Campus, San Juan, Puerto Rico.
P R Health Sci J. 2011 Jun;30(2):87-9.
Neonatal diabetes mellitus (NDM) is a rare disorder. A one-month-old boy presented with vomiting, hyperglycemia (968 mg/dl [53.8 mmol/L]), severe acetonemia, and metabolic acidosis (pH 6.95, HCO3-4.2 mmol/L). A second child (three months of age) presented with upper respiratory tract symptoms and a plasma glucose level of 835 mg/dl, without acetonemia or acidosis. Both were hospitalized and managed with intravenous fluids and then discharged on insulin. Genetic testing identified the presence of the de nova V59M and E322K activating mutations in the KCNJ11 gene encoding the sulphonylurea/potassium channel (Kir6.2 subunit) of the insulin beta cell. Both patients were switched to glibenclamide and remain off insulin. To our knowledge, these are the first children in Puerto Rico identified with NDM secondary to a KCNJ11 activating mutation. We conclude that NDM secondary to KCNJ11/Kir6.2 activating mutations, although unusual, should be considered in similar cases since patients with these mutations could come off insulin.
新生儿糖尿病（NDM）是一种罕见的疾病。一名1个月大的男婴出现呕吐、高血糖（968 mg/dl [53.8 mmol/L]）、严重酮血症和代谢性酸中毒（pH 6.95，HCO3- 4.2 mmol/L）。另一名儿童（3个月大）出现上呼吸道症状，血浆葡萄糖水平为835 mg/dl，无酮血症或酸中毒。两人均住院治疗，通过静脉补液进行处理，随后出院并使用胰岛素。基因检测发现，编码胰岛素β细胞磺脲类/钾通道（Kir6.2亚基）的KCNJ11基因中存在新发的V59M和E322K激活突变。两名患者均改用格列本脲，不再使用胰岛素。据我们所知，这是波多黎各首例因KCNJ11激活突变而确诊为NDM的儿童。我们得出结论，继发于KCNJ11/Kir6.2激活突变的NDM虽然不常见，但在类似病例中应予以考虑，因为携带这些突变的患者可以停用胰岛素。
