एंडोक्रिनोलॉजी और मेटाबोलिक सिंड्रोम

एंडोक्रिनोलॉजी और मेटाबोलिक सिंड्रोम
खुला एक्सेस

आईएसएसएन: 2161-1017


Clinical Analysis on 10 Patients with Permanent Neonatal Diabetes Mellitus

Wenli Yang, Yanmei Sang, Min Liu, Yi Gu, Cheng Zhu and Guichen Ni

Aim: Permanent neonatal diabetes (PNDM) is a rare condition occurring within the first six months of life. The patients with PNDM showed complex clinical features. A few patients accompanied with abnormalities of other systems and formed a series of PNDM syndrome. In this study, 10 patients with PNDM were selected as research subjects, the clinical manifestations and the treatment situations of the patients were analyzed so as to improve our cognition on PNDM and PNDM syndrome.

Methods: 10 PNDM patients hospitalized during 2002-2009 to our hospital were selected as research subjects. Clinical data of the patients were retrospectively concluded, and the clinical characteristics and treatment situations of the patients were analyzed.

Results: After long time followed up, all of the 10 patients were diagnosed as PNDM. 2 patients accompanied with muscle weakness, developmental delay, which diagnosed as iDEND syndrome. One patient accompanied with multiple epiphyseal dysplasias, growth retardation, and an episode of acute liver failure and isolated central hypothyroidism, which finally diagnoses as WRS syndrome. The growth and development of other 7 patients were normal.5 patients used Glibenclamide as a trial for 2-3 weeks immediately after the diagnosis of PNDM was made, during which 2 cases successfully switched from insulin injections to oral glibenclamide. One case had partial reaction to glibenclamide and was treated with the combination plan of insulin and glibenclamide. 2 cases had no reaction to the treatment of glibenclamide, continue with the insulin treatment.

Conclusion: PNDM have complex clinical manifestations. For the patients accompanied with abnormalities of other systems, NDM syndrome should be considered. Partial PNDM patients caused by KATP mutation have reaction to glibenclamide and could be treated with glibenclamide in long term.