Neonatal diabetes mellitus (NDM) is deﬁned as diabetes, either isolated or with syndromic features, diagnosed within the ﬁrst 6 months of life. NDM can be either permanent (PNDM) requiring lifelong treatment or transient (TNDM) with insulin dependence in the ﬁrst months only and a spontaneous remission of diabetes usually by 18 months of age.
NDM is most commonly associated with activating mutations of the ATP– sensitive plasma membrane potassium (KATP) channel genes ABCC8 (encoding the sulfonylurea receptor 1, SUR1) and KCNJ11 ( inward rectifying potassium ion channel Kir6.2). These mutations in the KATP channels impair the ability of ATP to close the channel, thereby preventing beta cell depolarization and insulin secretion.
Why is it important to identify mutations in patients with NDM?
Patients with some of the KATP mutations are responsive to oral sulphonylurea drugs and hence can be transitioned from insulin to oral sulphonylurea. Therefore, identification of KCNJ11 and ABCC8 mutations becomes important for clinical management as most of these sulphonylurea drugs bind to SUR1 subunit of KATP channel leading to the closure of the channel independent of ATP, with subsequent release of insulin.
Genes screened for NDM
KCNJ11, ABCC8 and Insulin genes will be screened.
Requirements for the genetic testing
Detailed clinical history along with blood/DNA samples from the patient, both parents and affected/unaffected siblings are required.
Consent Form – Mandatory to fill up and send along with the sample.
Download Neonatal Diabetes Registration Form | Online Neonatal Diabetes Registration
It is mandatory to fill this before any genetic testing has done.