Familial permanent neonatal diabetes with KCNJ11 mutation and the response to glyburide therapy - A three-year follow-up

Journal of Pediatric Endocrinology and Metabolism

Volumn 21, Issue 9, 2008, Pages 895-903

  Begum Hasan, Jahanara ^a   Polychronakos, Constantine ^b   Brill, Herbert ^b  

^a QUEEN S UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

Author keywords

Congenital diabetes mellitus; Glyburide therapy; KCNJ11 gene; Neonatal diabetes mellitus

Indexed keywords

C PEPTIDE; GLIBENCLAMIDE; HEMOGLOBIN A1C; INSULIN; INSULIN LISPRO; INSULIN ZINC SUSPENSION; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; ISOPHANE INSULIN; SULFONYLUREA;

ARTICLE; CASE REPORT; DIABETES MELLITUS; DRUG DOSE INCREASE; DRUG DOSE REDUCTION; DRUG DOSE TITRATION; DRUG RESPONSE; DRUG SUBSTITUTION; FAMILIAL PERMANENT NEONATAL DIABETES; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC ANALYSIS; GLYCEMIC CONTROL; HUMAN; HYPOGLYCEMIA; INSULIN TREATMENT; MATERNAL AGE; NEWBORN DISEASE; PRESCHOOL CHILD; SEIZURE; TREATMENT DURATION;

EID: 53849146370     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2008.21.9.895     Document Type: Article

References (17)

1. Metz C, Cavé H, Bertrand AM, Deffert C, Gueguen-Giroux B, Czernichow P, Polak M; NDM French Study Group. Neonatal diabetes mellitus: chromosome analyses in transient and permanent cases. J Pediatr 2004, 141: 483-489.
2. Polak M, Shield JP. Neonatal and very early onset diabetes mellitus. Semin Neonatol 2004; 9: 59-65.
3. Gribbie FM. Reimann F. Sulphonylurea action revisited: the post cloning era. Diabetologia 2003; 46: 875-891.
4. Bharucha T, Brown J, McDonnell C, Gebert R, McDougall P, Cameron F, Werther G, Zacharin M. Neonatal diabetes mellitus: insulin pump as an alternative management strategy. J Paediatr Child Health 2005; 41: 522-526.
5. Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Eilard S, Njølstad PR, Ashcroft FM, Hattersley AT. Activating mutations in the ATP sensitive potassium channel subunit Kir6.2 gene are associated with permanent neonatal diabetes. N Engl J Med 2004; 350: 1838-1849.
6. Vaxillaire M, Populaire C, Busiah K, Cavé H, Gloyn AL, Hattersley AT, Czernichow P, Froguel P, Polak M. Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes 2004; 53: 2719-2722.
7. Zung A, Glaser B, Nimri R, Zadik Z. Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2. J Clin Endocrinol Metab 2004; 89: 5504-5507.
8. Sagen JV, Raeder H, Hathout E, Shehadeh N, Gudmundsson K, Baevre H, Abuelo D, Phornphutkul C, Molnes J, Bell GI, Gloyn AL, Hattersley AT, Molven A, Søvik O, Njølstad PR. Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes 2004; 53: 2713-2718.
9. Klupa T, Edghill EL, Nazim J, Sieradzki J, Ellard S, Hattersley AT, Malecki MT. 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.
10. Landau Z, Wainstein J, Hanukoglu A, Tuval M, Lavie J, Glaser B. Sulfonylurea-responsive diabetes in childhood. J Pediatr 2007; 150: 553-558.
11. Pearson ER, Flechtner I, Njolstad PR. Switching from insulin to oral sulfonylurea in patients with diabetes due to Kir6.2 mutations. N Engl J Med 2006; 355: 467-477.
12. Tonini G, Bizzarri C, Bonfanti R, Vanelli M, Cerutti F, Faleschini E, Meschi F, Prisco F, Ciacco E, Cappa M, Torelli C, Cauvin V, Tumini S, Iafusco D, Barbetti F; Early-Onset Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetology. Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (Kir6.2) gene. Diabetologia 2006; 49: 2210-2213.
13. ATP channel and permanent neonatal diabetes: new insights and new treatment. Ann Med 2005; 37: 186-195.
14. Hattersley AT, Ashcroft FM. Activating mutations in Kir6.2 and neonatal diabetes. Diabetes 2005; 54: 2503-2513.
15. Proks P, Antcliff JF, Lippiat J, Gloyn AL, Hattersley AT, Ashcroft FM. Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. Proc Natl Acad Sci USA 2004; 101: 17539-17544.
16. Malecki MT, Skupien J, Klupa T, Wanic K, Mlynarski W, Gach A, Solecka I, Sieradzki J. Transfer to sulphonylurea therapy in adult subjects with permanent neonatal diabetes due to KCNJ11-activating mutations: evidence for improvement in insulin sensitivity. Diabetes Care 2007; 30: 147-149.
17. Marquis E, Robert JJ, Bouvattier C, Bellanné-Chantelot C, Junien C, Diatloff-Zito C. Major difference in aetiology and phenotypic abnormalities between transient and permanent neonatal diabetes. J Med Genet 2002; 39: 370-374.