Problemi non correnti
Il diabete neonatale, nelle sue forme transitorie e permanenti
TRANSIENT AND PERMANENT NEONATAL DIABETES MELLITUS
ELENA FALESCHINI
Clinica Pediatrica, IRCCS Burlo Garofolo, Trieste
Marzo 2007 - pagg. 169 -172
Abstract
Transient and permanent neonatal diabetes mellitus are rare conditions occuring in
1:400,000-500,000 newborns. Transient neonatal diabetes mellitus begins in the first few
weeks of life and disappears in a few months with frequent later relapse as permanent type
2 diabetes in adolescence. It is mostly associated to genetic defects of the chromosome 6. Permanent
neonatal diabetes requires treatment for life and until recently the genetic etiology was
largely unknown. Now we know that the most common cause of permanent neonatal diabetes
mellitus is associated with activating mutations in the genes, wich encode the subunits of
the ATP-sensitive potassium channels. In this paper, we report the success of the sulphonylurea
treatment in a case of permanent neonatal diabetes with activating mutations of KCNJ11.
Parole chiave
Classificazione MeSH
Bibliografia
1. Shield JP. Neonatal diabetes: new insights into
aetiology and implications. Horm Res 2000;
53 suppl 1:7-11.
2. Von Muhlendahl KE, Herkenhoff H. Longterm course of neonatal diabetes. N Engl J Med 1995;333:704-8.
3. Temple IK, Gardner RJ, Mackay DJ, Barber JC, Robinson DO, Shield JP. Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes. Diabetes 2000;49: 1359-66.
4. Polak M, Shield J. Neonatal diabetes mellitus: genetic aspects 2004. Pediatr Endocrinol Rev 2004;2(2):193-8.
5. Metz C, Cave H, Bertrand AM, et al. Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases. J Pediatr 2002; 141:483-9.
6. Arima T, Drewell RA, Arney KL, et al. A conserved imprinting control region at the HYIlMAI/ZAC domain is implicated in transient neonatal diabetes mellitus. Hum Mol Genet 2001;10:1475-83.
7. Ma D, Shield JP, Dean W, et al. Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM. J Clin Invest 2004;114: 339-48.
8. Amiel SA, Sherwin RS, Simonson DC, Lauritano AA, Tamborlane WV. Impaired insulin action in puberty. A contributing factor to poor glycemic control in adolescents with diabetes. N Engl J Med 1986;315:215-9.
9. Njolstad PR, Sovik O, Cuesta-Munoz A, et al. Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med 2001; 344:1588-92.
10. Gloyn AL, Ellard S, Shield JP, et al. Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes. Diabetologia 2002;45:290.
11. Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JF. Pancreatic agenesis attributable to a single nucleotide delection in the human IPF1 gene coding sequence. Nat Genet 1997;15(1):106-10.
12. Wildin RS, Ramsdell F, Peake J, et al. Xlinked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat Genet 2001; 27:18-20.
13. Delepine M, Nicolino M, Barrett T, Golamaully M, Lathrop GM, Julier C. EIF2Ak3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. Nat Gen 2000;25:406-9.
14. Gloyn AL, Pearson ER, Antcliff JF, et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 2004;350:1838-49.
15. Babenko AP, Polak M, Cave H, et al. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med 2006;355: 456-66.
16. Gribble FM, Ashcroft FM. Sulfonylurea sensitivity of adenosine triphosphate-sensitive potassium channels from beta cells and extrapancreatic tissues. Metabolism 2000;49(10 Suppl 2):3-6.
17. Clement JP 4th, Kunjilwar K, Gonzalez G, et al. Association and stoichiometry of K(ATP) channel subunits. Neuron 1997;18: 827-38.
18. Olinder AL, Kernell A, Smide B. Treatment with CSII in two infants with neonatal diabetes mellitus. Pediatr Diabetes 2006;7(5):284-8.
19. Sperling MA. ATP-sensitive potassium channels-neonatal diabetes mellitus and beyond. N Engl J Med 2006;355: 507-10.
20. Pearson ER, Flechtner I, Njolstad PR, et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 2006;355:467-77.
2. Von Muhlendahl KE, Herkenhoff H. Longterm course of neonatal diabetes. N Engl J Med 1995;333:704-8.
3. Temple IK, Gardner RJ, Mackay DJ, Barber JC, Robinson DO, Shield JP. Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes. Diabetes 2000;49: 1359-66.
4. Polak M, Shield J. Neonatal diabetes mellitus: genetic aspects 2004. Pediatr Endocrinol Rev 2004;2(2):193-8.
5. Metz C, Cave H, Bertrand AM, et al. Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases. J Pediatr 2002; 141:483-9.
6. Arima T, Drewell RA, Arney KL, et al. A conserved imprinting control region at the HYIlMAI/ZAC domain is implicated in transient neonatal diabetes mellitus. Hum Mol Genet 2001;10:1475-83.
7. Ma D, Shield JP, Dean W, et al. Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM. J Clin Invest 2004;114: 339-48.
8. Amiel SA, Sherwin RS, Simonson DC, Lauritano AA, Tamborlane WV. Impaired insulin action in puberty. A contributing factor to poor glycemic control in adolescents with diabetes. N Engl J Med 1986;315:215-9.
9. Njolstad PR, Sovik O, Cuesta-Munoz A, et al. Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med 2001; 344:1588-92.
10. Gloyn AL, Ellard S, Shield JP, et al. Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes. Diabetologia 2002;45:290.
11. Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JF. Pancreatic agenesis attributable to a single nucleotide delection in the human IPF1 gene coding sequence. Nat Genet 1997;15(1):106-10.
12. Wildin RS, Ramsdell F, Peake J, et al. Xlinked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat Genet 2001; 27:18-20.
13. Delepine M, Nicolino M, Barrett T, Golamaully M, Lathrop GM, Julier C. EIF2Ak3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. Nat Gen 2000;25:406-9.
14. Gloyn AL, Pearson ER, Antcliff JF, et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 2004;350:1838-49.
15. Babenko AP, Polak M, Cave H, et al. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med 2006;355: 456-66.
16. Gribble FM, Ashcroft FM. Sulfonylurea sensitivity of adenosine triphosphate-sensitive potassium channels from beta cells and extrapancreatic tissues. Metabolism 2000;49(10 Suppl 2):3-6.
17. Clement JP 4th, Kunjilwar K, Gonzalez G, et al. Association and stoichiometry of K(ATP) channel subunits. Neuron 1997;18: 827-38.
18. Olinder AL, Kernell A, Smide B. Treatment with CSII in two infants with neonatal diabetes mellitus. Pediatr Diabetes 2006;7(5):284-8.
19. Sperling MA. ATP-sensitive potassium channels-neonatal diabetes mellitus and beyond. N Engl J Med 2006;355: 507-10.
20. Pearson ER, Flechtner I, Njolstad PR, et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 2006;355:467-77.
Corrispondenza: faleschini@burlo.trieste.it