Shaw Natalie D, Majzoub Joseph A
Division of Endocrinology, Department of Medicine, Children's Hospital Boston, 300 Longwood Avenue, Boston, MA 02115, USA.
Int J Pediatr Endocrinol. 2009;2009:453240. doi: 10.1155/2009/453240. Epub 2009 Oct 8.
The most common monogenic cause of neonatal diabetes is mutation in KCNJ11, which encodes a potassium channel in pancreatic beta cells. Some mutations in this gene, including Q52R, have been described in association with neurological deficits, but never with hepatic involvement. We report the second case of neonatal diabetes in a patient with a KCNJ11/Q52R mutation. This patient's clinical course did not include obvious neurological deficits despite the presence of prematurity, but did include transient hyperbilirubinemia, and recurrent hypoglycemia. The phenotypic spectrum of KCNJ11 mutations is variable and is likely influenced by additional genetic and environmental factors.
新生儿糖尿病最常见的单基因病因是KCNJ11基因突变，该基因编码胰腺β细胞中的一种钾通道。该基因的一些突变，包括Q52R，已被描述与神经功能缺损有关，但从未与肝脏受累相关。我们报告了第二例携带KCNJ11/Q52R突变的新生儿糖尿病患者。尽管该患者早产，但临床过程中未出现明显的神经功能缺损，不过确实出现了短暂性高胆红素血症和反复低血糖。KCNJ11突变的表型谱是可变的，可能受其他遗传和环境因素影响。
