Permanent neonatal diabetes due to KCNJ11 gene mutation.
Permanent neonatal diabetes mellitus (PNDM) is characterized by the onset of diabetes within the first six months of life and insulin dependence life long. It has been recently discovered that mutation in KCNJ11 gene encoding Kir6.2, the pore forming subunit of ATP sensitive potassium channel (K ATP) is the most common cause and such patients may respond better to oral sulphonylurea drugs than insulin. Here is a rare case of permanent neonatal diabetes due to R20IC mutation in KCNJ11 gene.
Letha
S
S
Department of Pediatrics, Government Medical College, Kottayam, Kerala, India. drletha@gmail.com
Mammen
Darly
D
Valamparampil
Joseph J
JJ
D058186:Acute Kidney Injury / Q000097:blood / Q000175:diagnosis; D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine / Q000235:genetics; D001786:Blood Glucose / Q000378:metabolism; D003545:Cysteine / Q000235:genetics; D004252:DNA Mutational Analysis; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D016883:Diabetic Ketoacidosis / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D005905:Glyburide / Q000008:administration & dosage; D006801:Humans; D007004:Hypoglycemic Agents / Q000008:administration & dosage; D007223:Infant; D007231:Infant, Newborn; D007328:Insulin / Q000008:administration & dosage / Q000097:blood; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D000099161:Kcnj11 Channel
D001120:Arginine; D001786:Blood Glucose; D003545:Cysteine; D005905:Glyburide; D007004:Hypoglycemic Agents; D007328:Insulin; D024661:Potassium Channels, Inwardly Rectifying; D000099161:Kcnj11 Channel