Permanent Neonatal Diabetes Mellitus: Same Mutation, Different Glycemic Control with Sulfonylurea Therapy on Long-Term Follow-up

• DOI: 10.4274/jcrpe.524
• Publication Date: 2012-06-07T17:52:54Z
• Authors: Banu Küçükemre Aydın; Rüveyde Bundak; Firdevs Baş; Hülya Maraş; Nurçin Saka; Hülya Günöz; Feyza Darendeliler
• Keywords: Sulfonylurea

In tro duc ti onPermanent neonatal diabetes mellitus (PNDM) is a form of insulin-requiring presenting before six months age and likely to be non-autoimmune in nature.It rare condition occurring only 1.43-1.96/100 000 infants (1).Affected frequently present with symptomatic hyperglycemia sometimes ketoacidosis (2).As result lower foetal insulin production, birth weight low most PNDM (1).It now accepted that neonates within the first 6 life have monogenic disease although responsible gene remains unknown up 40% patients (3).The common causes are mutations genes (KCNJ11 ABCC8) encoding two protein subunits [Kir6.2 sulfonylurea receptor 1 (SUR1), respectively] ATP-sensitive potassium (K ATP ) channel itself (3,4,5,6,7,8).K critical regulator beta-cell secretion.Insulin secretion initiated by closure channels inhibited their opening.The K an octameric complex consisting four Kir6.2 SUR1 subunits.In case activating or SUR1, open leading impaired diabetes.In contrast, loss-of-function lead congenital hyperinsulinemia same mechanism (9).Identification underlying genetic cause has led improved treatment for mutation KCNJ11 ABCC8. ABS TRACTPermanent age.Mutations causes.Sulfonylurea (SU) therapy leads dramatic improvement control quality who carry these mutations.Here, we report long-term follow-up results siblings were treated until ABCC8 was identified, successfully transferred oral SU therapy.After 3.5 years on SU, one patient had very good response, while other poor response.Bad compliance diet thought probable reason glycemic this patient.In conclusion, molecular diagnosis all recommended.Compliance should important aspect patients.