Sulfonylurea treatment before genetic testing in neonatal diabetes: Pros and cons

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 12, 2014, Pages E2709-E2714

  Carmody, David ^a   Bell, Charles D ^a   Hwang, Jessica L ^a   Dickens, Jazzmyne T ^a   Sima, Daniela I ^b   Felipe, Dania L ^c   Zimmer, Carrie A ^d   Davis, Ajuah O ^e   Kotlyarevska, Kateryna ^f   Naylor, Rochelle N ^a   Philipson, Louis H ^a   Greeley, Siri Atma W ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b ALBANY MEDICAL CENTER   (United States)

^c LOUISIANA STATE UNIVERSITY HEALTH SCIENCES CENTER   (United States)

^d Edward Hospital   (United States)

^e METROHEALTH MEDICAL CENTER   (United States)

^f NEW HANOVER REGIONAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

C PEPTIDE; GLIBENCLAMIDE; INSULIN; ABCC8 PROTEIN, HUMAN; ANTIDIABETIC AGENT; INWARDLY RECTIFYING POTASSIUM CHANNEL; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; SULFONYLUREA DERIVATIVE; SULFONYLUREA RECEPTOR;

ARTICLE; CHROMOSOME 6Q; DIABETES MELLITUS; DISEASE REGISTRY; DRUG SAFETY; DRUG WITHDRAWAL; GENE; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HYPOGLYCEMIA; INSULIN TREATMENT; KCNJ11 GENE; MAJOR CLINICAL STUDY; NEONATAL DIABETES; NEWBORN; NEWBORN DISEASE; NUCLEOTIDE SEQUENCE; OBSERVATIONAL STUDY; RETROSPECTIVE STUDY; RISK BENEFIT ANALYSIS; TREATMENT OUTCOME; UNSPECIFIED SIDE EFFECT; DIABETES MELLITUS, TYPE 1; FEMALE; GENETICS; INFANT; MALE; PROCEDURES;

DIABETES MELLITUS, TYPE 1; FEMALE; GENETIC TESTING; HUMANS; HYPOGLYCEMIC AGENTS; INFANT; INFANT, NEWBORN; MALE; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RETROSPECTIVE STUDIES; SULFONYLUREA COMPOUNDS; SULFONYLUREA RECEPTORS;

EID: 84916613593     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-2494     Document Type: Article

References (31)

1. Greeley SA, Tucker SE, Naylor RN, Bell GI, Philipson LH. Neonatal diabetes mellitus: a model for personalized medicine. Trends Endocrinol Metab. 2010;21:464-472.
2. Wiedemann B, Schober E, Waldhoer T, et al. Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register. Pediatr Diabetes. 2010;11:18-23.
3. Iafusco D, Massa O, Pasquino B, et al. Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births. Acta Diabetol. 2012;49:405-408.
4. Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT. Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia. 2006;49:1190-1197.
5. Edghill EL, Dix RJ, Flanagan SE, et al. HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months. Diabetes. 2006;55:1895-1898.
6. Greeley SA, Naylor RN, Philipson LH, Bell GI. Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment. Curr Diab Rep. 2011;11:519-532.
7. Pearson ER, Flechtner I, Njølstad PR, et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med. 2006;355:467-477.
8. Babenko AP, Polak M, Cavé H, et al. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med. 2006; 355:456-466.
9. Støy J, Greeley SA, Paz VP, et al. Diagnosis and treatment of neonatal diabetes: a United States experience. Pediatr Diabetes. 2008;9:450-459.
10. Gloyn AL, Pearson ER, Antcliff JF, et al. Activating mutations in the geneencodingthe ATP-sensitive potassium-channel subunit Kir6.2and permanent neonatal diabetes. N Engl J Med. 2004;350:1838-1849.
11. Koster JC, Remedi MS, Dao C, Nichols CG. ATP and sulfonylurea sensitivity of mutant ATP-sensitive K+ channels in neonatal diabetes: implications for pharmacogenomic therapy. Diabetes. 2005;54:2645-2654.
12. Rafiq M, Flanagan SE, Patch AM, Shields BM, Ellard S, Hattersley AT, Neonatal Diabetes International Collaborative Group. Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes Care. 2008;31:204-209.
13. Iafusco D, Bizzarri C, Cadario F, et al. No β desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes. Diabetologia. 2011;54:2736-2738.
14. Støy J, Edghill EL, Flanagan SE, et al. Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci USA. 2007;104:15040-15044.
15. Lango Allen H, Flanagan SE, Shaw-Smith C, et al. GATA6 haplo-insufficiency causes pancreatic agenesis in humans. Nat Genet. 2012;44:20-22.
16. Turkkahraman D, Bircan I, Tribble ND, Akc¸urin S, Ellard S, Gloyn AL. Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy. J Pediatr. 2008;153:122-126.
17. Greeley SA, John PM, Winn AN, et al. The cost-effectiveness of personalized genetic medicine: the case of genetic testing in neonatal diabetes. Diabetes Care. 2011;34:622-627.
18. Shah RP, Spruyt K, Kragie BC, Greeley SA, Msall ME. Visuomotor performance in KCNJ11-rElated neonatal diabetes is impaired in children with DEND-associated mutations and may be improved by early treatment with sulfonylureas. Diabetes Care. 2012;35:2086-2088.
19. Greeley SA, Naylor RN, Cook LS, Tucker SE, Lipton RB, Philipson LH. Creation of the Web-based University of Chicago Monogenic Diabetes Registry: using technology to facilitate longitudinal study of rare subtypes of diabetes. J Diabetes Sci Technol. 2011;5:879-886.
20. Mackay DJ, Temple IK, Shield JP, Robinson DO. Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology. Hum Genet. 2005;116:255-261.
21. Laughon MM, Avant D, Tripathi N, et al. Drug labeling and exposure in neonates. JAMA Pediatr. 2014;168:130-136.
22. Codner E, Flanagan S, Ellard S, García H, Hattersley AT. High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation. Diabetes Care. 2005;28:758-759.
23. Kumaraguru J, Flanagan SE, Greeley SA, et al. Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect. Diabetes Care. 2009;32:1428-1430.
24. UKPDS 28: a randomized trial of efficacy of early addition of metformin in sulfonylurea-treated type 2 diabetes. U.K. Prospective Diabetes Study Group. Diabetes Care. 1998;21:87-92.
25. Codner E, Flanagan SE, Ugarte F, et al. Sulfonylurea treatment in young children with neonatal diabetes: dealing with hyperglycemia, hypoglycemia, and sick days. Diabetes Care. 2007;30:e28-e29.
26. Chakera AJ, Flanagan SE, Ellard S, Hattersley AT. Comment on: Khurana et al. The diagnosis of neonatal diabetes in a mother at 25 years of age. Diabetes Care 2012;35:e59. Diabetes Care. 2013;36:e31.
27. Wambach JA, Marshall BA, Koster JC, White NH, Nichols CG. Successful sulfonylurea treatment of an insulin-naïve neonate with diabetes mellitus due to a KCNJ11 mutation. Pediatr Diabetes. 2010;11:286-288.
28. Ashcroft FM. Adenosine 5′-triphosphate-sensitive potassium channels. Annu Rev Neurosci. 1988;11:97-118.
29. Busiah K, Drunat S, Vaivre-Douret L, et al. Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected]. Lancet Diabetes Endocrinol. 2013;1:199-207.
30. Slingerland AS, Hurkx W, Noordam K, et al. Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation. Diabet Med. 2008;25:277-281.
31. 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.