Transient neonatal diabetes with two novel mutations in the KCNJ11 gene and response to sulfonylurea treatment in a preterm infant.
Neonatal diabetes mellitus (NDM) is a rare condition that can be either transient or permanent. K(ATP) channel (Kir6.2 or SUR1) mutation, chromosome 6 abnormalities, insulin, or glucokinase gene mutations can lead to isolated NDM. Cases caused by Kir6.2 mutation usually result in permanent NDM (PNDM) rather than transient NDM (TNDM). The majority of patients with the Kir6.2 or SUR1 mutation can be successfully managed with a sulfonylurea agent, without the need for insulin. We report a preterm male with NDM having two novel missense mutations, E322A and D352H, in the KCNJ11 gene. At 2 months of age, successful transition from insulin to glibenclamide (glyburide) therapy of the patient was managed. At 5 months of age, his diabetes went in to remission.
Ankara University School of Medicine, Ankara, Turkey. zeynepsklr@gmail.com
Zeynep
Z
Siklar
Sian
S
Ellard
Emel
E
Okulu
Merih
M
Berberoğlu
Elizabeth
E
Young
Senay
S
Savaş Erdeve
Ilke Akin
IA
Mungan
Bülent
B
Hacihamdioğlu
Omer
O
Erdeve
Saadet
S
Arsan
Gönül
G
Oçal
D003920:Diabetes Mellitus / Q000188:drug therapy* / Q000235:genetics*; D005905:Glyburide / Q000627:therapeutic use*; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000188:drug therapy* / Q000235:genetics*; D007234:Infant, Premature; D000069036:Insulin Glargine; D049528:Insulin, Long-Acting / Q000627:therapeutic use; D008297:Male; D017354:Point Mutation / Q000235:genetics; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D012074:Remission Induction; D000099161:Kcnj11 Channel
D005905:Glyburide; D007004:Hypoglycemic Agents; D000069036:Insulin Glargine; D049528:Insulin, Long-Acting; D024661:Potassium Channels, Inwardly Rectifying; D000099161:Kcnj11 Channel