Successful sulfonylurea treatment of an insulin-naïve neonate with diabetes mellitus due to a KCNJ11 mutation

Pediatric Diabetes

Volumn 11, Issue 4, 2010, Pages 286-288

  Wambach, Jennifer A ^a   Marshall, Bess A ^a   Koster, Joseph C ^a   White, Neil H ^a   Nichols, Colin G ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

KATP; KCNJ11; Kir6.2; Neonatal diabetes; Sulfonylurea

Indexed keywords

ADENOSINE TRIPHOSPHATE; GLIBENCLAMIDE; GLUCOSE; INSULIN; SULFONYLUREA;

ARTICLE; CASE REPORT; DIABETES MELLITUS; DRUG EFFICACY; DRUG SAFETY; GENE; GENE MUTATION; GLUCOSE BLOOD LEVEL; HUMAN; INFANT; KCNJ11 GENE; MALE; NEWBORN DISEASE; PRIORITY JOURNAL;

BLOOD GLUCOSE; CHILD; DIABETES MELLITUS; EARLY DIAGNOSIS; FEMALE; GLYBURIDE; HUMANS; HYPOGLYCEMIC AGENTS; INFANT, NEWBORN; INSULIN; MALE; MUTATION; POTASSIUM CHANNELS, INWARDLY RECTIFYING; TREATMENT OUTCOME; YOUNG ADULT;

EID: 77954491071     PISSN: 1399543X     EISSN: 13995448     Source Type: Journal    
DOI: 10.1111/j.1399-5448.2009.00557.x     Document Type: Article

References (10)

1. Girard CA, Wunderlich FT, Shimomura K. Expression of an activating mutation in the gene encoding the KATP channel subunit Kir6.2 in mouse pancreatic beta cells recapitulates neonatal diabetes. J Clin Invest 2009, 119:80-90.
2. Remedi MS, Kurata HT, Scott A. Secondary consequences of beta cell inexcitability: identification and prevention in a murine model of K(ATP)-induced neonatal diabetes mellitus. Cell Metab 2009, 9:140-151.
3. Nichols CG. KATP channels as molecular sensors of cellular metabolism. Nature 2006, 440:470-476.
4. Gloyn AL, Pearson ER, Antcliff JF. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 2004, 350:1838-1849.
5. Pearson ER, Flechtner I, Njolstad PR. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.[see comment]. N Engl J Med 2006, 355:467-477.
6. Massa O, Iafusco D, D'Amato E. KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Human Mutation 2005, 25:22-27.
7. Sagen JV, Raeder H, Hathout E. Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes 2004, 53:2713-2718.
8. Klupa T, Edghill EL, Nazim J. The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R201H mutation. Diabetologia 2005, 48:1029-1031.
9. Pearson ER, Flechtner I, Njolstad PR. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 2006, 355:467-477.
10. Koster JC, Cadario F, Peruzzi C, Colombo C, Nichols CG, Barbetti F. The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy. J Clin Endocrinol Metab 2008, 93:1054-1061.