3/2007Permanent neonatal diabetes (PND) – diagnostic challenge

EWA DRABIK-DANIS (Katedra i Zakład Medycyny Rodzinnej Akademii Medycznej we Wrocławiu;Kierownik: prof. dr hab. med. Andrzej Steciwko)

Summary
Progress in recognizing pathogenesis of diabetes at very early beginning brings new challenges to pediatricians and family doctors. In the paper problems of diabetes diagnosed in patients in first six months of their life are discussed. Learning of new diagnostic and therapeutic approach coming from the new knowledge is a chal- lenge for pediatricians and endocrinologists. Kinds of diabetes in infants are shown especially PND (permanent neonatal diabetes). A significant role in this completely different syndrome has molecular diagnosis because genetic base have over 50 percent of all PND cases discovered. Criteria of recommending to genetic specialist are shown and the importance of diagnosis with genetic tests in neonatal diabetes and PND is stressed. Known kinds of mutations in PND are discussed and their clinical consequences, influence on diagnostic decisions, prognosis and choice of optimal therapy. Genetic testing and molecular diagnosis will have growing role in differential diagnoses of rare monogenic forms of diabetes like permanent neonatal diabetes (PND) which was shown.

Key words: hyperglycemia, neonatal diabetes, permanent neonatal diabetes, PND, genetic testing