Neonatal Diabetes Mellitus -- genetic aspects 2004.
Transient (TNDM) and Permanent (PNDM) Neonatal Diabetes Mellitus are rare conditions occurring in 1:400,000-500,000 live births. In TNDM growth retarded infants develop diabetes in the first few weeks of life only to go into remission in a few months with possible relapse to a permanent diabetes state usually around adolescence or as adults. We believe that pancreatic dysfunction in this condition is maintained throughout life with relapse initiated at times of metabolic stress such as puberty or pregnancy. In PNDM, insulin secretory failure occurs in the late fetal or early post-natal period. A number of conditions are associated with PNDM, some of which have been elucidated at the molecular levels Among those, the very recently elucidated mutations in KCNJ11 gene, encoding the Kir6.2 subunit of the pancreatic KATP channel involved in regulation of insulin secretion accounts for one third to a half of the PNDM cases.
Polak
Michel
M
Paediatric endocrinology and INSERM EMI 0363, Hopital Necker-Enfants Malades, 149 rue de Sevres, Paris, France. michel.polak@nck.ap-hop-paris.fr
Shield
Julian
J
D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics*