Abstract:
:Permanent neonatal diabetes mellitus (PNDM) is a rare condition presenting before six months of age. Mutations in the genes encoding the ATP-sensitive potassium (KATP) channel are the most common causes. Sulfonylurea (SU) therapy leads to dramatic improvement in diabetes control and quality of life in most patients who carry these mutations. Here, we report the long-term follow-up results of two siblings with PNDM who were treated with insulin until ABCC8 gene mutation was identified, and were successfully transferred to oral SU therapy. After 3.5 years of follow-up on SU, one patient had a very good response, while the other one had a poor response. Bad compliance to diet was thought to be the most probable reason for poor glycemic control in this patient. In conclusion, molecular genetic diagnosis in all patients with PNDM is recommended. Compliance to treatment should be an important aspect of the follow-up of these patients.
journal_name
J Clin Res Pediatr Endocrinoljournal_title
Journal of clinical research in pediatric endocrinologyauthors
Aydin BK,Bundak R,Baş F,Maraş H,Saka N,Günöz H,Darendeliler Fdoi
10.4274/jcrpe.524subject
Has Abstractpub_date
2012-06-01 00:00:00pages
107-10issue
2eissn
1308-5727issn
1308-5735journal_volume
4pub_type
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