Neonatal diabetes: how research unravelling the genetic puzzle has both widened our understanding of pancreatic development whilst improving children's quality of life.
It has become increasingly apparent over the last few years that the seemingly ubiquitous auto-immune aetiology to pre-pubertal diabetes does not apply to those diagnosed under 6 months of age. In this age group, disease appears, in the vast majority of cases, to be conferred by single gene disorders mainly related to pancreatic development. The unravelling of these disorders has resulted in a far greater understanding of pancreatic development and some startling changes in treatment, resulting in improved quality of life and diabetes control. The progress made in our scientific and clinical understanding of these extremely rare diseases is a perfect example of how studying seemingly rare illnesses can improve our overall knowledge of much more common conditions.
Shield
Julian P H
JP
University of Bristol and Bristol Royal Hospital for Children, Bristol, UK. j.p.h.shield@bristol.ac.uk
D000818:Animals; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D003922:Diabetes Mellitus, Type 1 / Q000188:drug therapy / Q000235:genetics*; D051858:Forkhead Transcription Factors / Q000235:genetics; D005941:Glucokinase / Q000235:genetics; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000188:drug therapy; D007328:Insulin / Q000627:therapeutic use; D007332:Insulin Infusion Systems; D010179:Pancreas / Q000254:growth & development; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics; D015534:Trans-Activators / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D019892:eIF-2 Kinase / Q000235:genetics; D000099161:Kcnj11 Channel
D051858:Forkhead Transcription Factors; D005941:Glucokinase; D051539:Hepatocyte Nuclear Factor 1-beta; D018398:Homeodomain Proteins; D007328:Insulin; D024661:Potassium Channels, Inwardly Rectifying; D015534:Trans-Activators; D014157:Transcription Factors; D019892:eIF-2 Kinase; D000099161:Kcnj11 Channel; C418974:FOXP3 protein, human; C084010:pancreatic and duodenal homeobox 1 protein; C062602:transcription factor PTF1; C460640:EIF2AK3 protein, human