Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up.

Literature DB >> 28511139

A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up.

Dragan Katanic¹, Ivana Vorgučin², Andrew Hattersley³, Sian Ellard³, Jayne A L Houghton⁴, Dragana Obreht⁵, Marija Knežević Pogančev², Jovan Vlaški², Danijela Pavkov².

Abstract

Neonatal diabetes mellitus is a rare monogenic disease with incidence of 1/90,000 newborns. A case of two months aged male infant with life threatening diabetic ketoacidosis is presented with novel ABCC8 gene mutation (p.F577L), successful transition from insulin to sulfonylurea and follow-up of three years.

Entities: Chemical Disease Gene Mutation Species

Keywords: ABCC8 mutation; Neonatal diabetes; Sulfonylurea

Mesh：

Substances：

Year: 2017 PMID： 28511139 PMCID： PMC5612402 DOI： 10.1016/j.diabres.2017.04.021

Source DB: PubMed Journal: Diabetes Res Clin Pract ISSN： 0168-8227 Impact factor: 5.602

13 in total

1. ATP-sensitive potassium channels--neonatal diabetes mellitus and beyond.

Authors: Mark A Sperling
Journal: N Engl J Med Date: 2006-08-03 Impact factor: 91.245

2. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

Authors: Ewan R Pearson; Isabelle Flechtner; Pål R Njølstad; Maciej T Malecki; Sarah E Flanagan; Brian Larkin; Frances M Ashcroft; Iwar Klimes; Ethel Codner; Violeta Iotova; Annabelle S Slingerland; Julian Shield; Jean-Jacques Robert; Jens J Holst; Penny M Clark; Sian Ellard; Oddmund Søvik; Michel Polak; Andrew T Hattersley
Journal: N Engl J Med Date: 2006-08-03 Impact factor: 91.245

3. New ABCC8 mutations in relapsing neonatal diabetes and clinical features.

Authors: Martine Vaxillaire; Aurélie Dechaume; Kanetee Busiah; Hélène Cavé; Sabrina Pereira; Raphael Scharfmann; Guiomar Perez de Nanclares; Luis Castano; Philippe Froguel; Michel Polak
Journal: Diabetes Date: 2007-03-27 Impact factor: 9.461

Review 4. Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment.

Authors: Siri Atma W Greeley; Rochelle N Naylor; Louis H Philipson; Graeme I Bell
Journal: Curr Diab Rep Date: 2011-12 Impact factor: 4.810

5. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

Authors: Anna L Gloyn; Ewan R Pearson; Jennifer F Antcliff; Peter Proks; G Jan Bruining; Annabelle S Slingerland; Neville Howard; Shubha Srinivasan; José M C L Silva; Janne Molnes; Emma L Edghill; Timothy M Frayling; I Karen Temple; Deborah Mackay; Julian P H Shield; Zdenek Sumnik; Adrian van Rhijn; Jerry K H Wales; Penelope Clark; Shaun Gorman; Javier Aisenberg; Sian Ellard; Pål R Njølstad; Frances M Ashcroft; Andrew T Hattersley
Journal: N Engl J Med Date: 2004-04-29 Impact factor: 91.245

6. Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.

Authors: Meena Rafiq; Sarah E Flanagan; Ann-Marie Patch; Beverley M Shields; Sian Ellard; Andrew T Hattersley
Journal: Diabetes Care Date: 2007-11-19 Impact factor: 19.112

7. Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children.

Authors: S Jahnavi; V Poovazhagi; V Mohan; D Bodhini; P Raghupathy; A Amutha; P Suresh Kumar; P Adhikari; M Shriraam; T Kaur; A K Das; J Molnes; P R Njolstad; R Unnikrishnan; V Radha
Journal: Clin Genet Date: 2012-08-20 Impact factor: 4.438

8. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

Authors: Andrey P Babenko; Michel Polak; Hélène Cavé; Kanetee Busiah; Paul Czernichow; Raphael Scharfmann; Joseph Bryan; Lydia Aguilar-Bryan; Martine Vaxillaire; Philippe Froguel
Journal: N Engl J Med Date: 2006-08-03 Impact factor: 91.245

9. Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births.

Authors: D Iafusco; O Massa; B Pasquino; C Colombo; L Iughetti; C Bizzarri; C Mammì; D Lo Presti; T Suprani; R Schiaffini; Colin G Nichols; L Russo; V Grasso; F Meschi; R Bonfanti; S Brescianini; F Barbetti
Journal: Acta Diabetol Date: 2011-09-28 Impact factor: 4.280

10. Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations.

Authors: Huseyin Demirbilek; Ved Bhushan Arya; Mehmet Nuri Ozbek; Jayne A L Houghton; Riza Taner Baran; Melek Akar; Selahattin Tekes; Heybet Tuzun; Deborah J Mackay; Sarah E Flanagan; Andrew T Hattersley; Sian Ellard; Khalid Hussain
Journal: Eur J Endocrinol Date: 2015-03-09 Impact factor: 6.664

3 in total

A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up.

1. ATP-sensitive potassium channels--neonatal diabetes mellitus and beyond.

2. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

3. New ABCC8 mutations in relapsing neonatal diabetes and clinical features.

Review 4. Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment.

5. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

6. Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.

7. Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children.

8. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

9. Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births.

10. Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations.

Review 1. Recent Advances in Neonatal Diabetes.

2. Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review.

Review 3. New insights into K_ATP channel gene mutations and neonatal diabetes mellitus.

Review 4. Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment.

Review 1. Recent Advances in Neonatal Diabetes.

Review 3. New insights into KATP channel gene mutations and neonatal diabetes mellitus.

Review 3. New insights into K_ATP channel gene mutations and neonatal diabetes mellitus.