Neonatal diabetes mellitus for midwife .pptx

Neonatal diabetic mellitus

1. Neonatal diabetes mellitu

2. Neonatal diabetes mellitus Neonatal diabetes mellitus (NDM) is a rare monogenic metabolic disorder which presents as uncontrolled hyperglycemia during the first 6 months of life. The estimated incidence is about 1/300,000–500,000 live births. Two different clinical phenotypes have been recognized: T ransient neonatal diabetes mellitus (TNDM) and permanent diabetes mellitus (PNDM ), which differ in the duration of insulin dependence. In TNDM, insulin treatment may be discontinued within 18 months after diagnosis although about 50% relapse during childhood or adulthood. PNDM require treatment for life. Almost all neonates affected by NDM are SGA, although some with PNDM are not SGA

3. Etiology About 60–70% of patients affected by TNDM Show abnormalities in the 6q24 region. TNDM is usually sporadic, although about one third of cases have paternal transmission (paternal duplications, paternal isodisomy , methylation defect). Most patients with PNDM carry mutations of the KATP channel (50–70%). Other genetic defects associated with PNDM are less commo

4. Clinical Presentation NDM presents as hyperglycemia, failure to thrive, dehydration, and ketoacidosis during the first months of life. TNDM usually onsets early, often in the first week of life, while PNDM onset later, generally within 3 months of life. PNDM may occur as an isolated abnormality or as a part of a syndrome Patients with mutations of the ATP-sensitive potassium (KATP) channel (KCNJ11 and ABCC8 genes) may present with DEND syndrome (delayed development, epilepsy, NDM) or iDEND phenotype ( DEND without epilepsy ).