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K ATP Permanent Neonatal Diabetes

MedGen UID:
1380998
•Concept ID:
C4321446
•
Disease or Syndrome

Definition

K ATP channel-associated neonatal diabetes mellitus that does not resolve spontaneously. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVK ATP Permanent Neonatal Diabetes

Professional guidelines

PubMed

Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of K(ATP)-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital.
Ngoc CTB, Dien TM, De Franco E, Ellard S, Houghton JAL, Lan NN, Thao BP, Khanh NN, Flanagan SE, Craig ME, Dung VC
Front Endocrinol (Lausanne) 2021;12:727083. Epub 2021 Sep 9 doi: 10.3389/fendo.2021.727083. PMID: 34566892Free PMC Article
Genotype-phenotype correlation of K(ATP) channel gene defects causing permanent neonatal diabetes in Indian patients.
Gopi S, Kavitha B, Kanthimathi S, Kannan A, Kumar R, Joshi R, Kanodia S, Arya AD, Pendsey S, Pendsey S, Raghupathy P, Mohan V, Radha V
Pediatr Diabetes 2021 Feb;22(1):82-92. Epub 2020 Sep 15 doi: 10.1111/pedi.13109. PMID: 32893419
Defining the genetic aetiology of monogenic diabetes can improve treatment.
Gloyn AL, Ellard S
Expert Opin Pharmacother 2006 Sep;7(13):1759-67. doi: 10.1517/14656566.7.13.1759. PMID: 16925503

Recent clinical studies

Etiology

Hyperinsulinism in the Neonate.
Lord K, De León DD
Clin Perinatol 2018 Mar;45(1):61-74. Epub 2017 Dec 6 doi: 10.1016/j.clp.2017.10.007. PMID: 29406007
ADHD, learning difficulties and sleep disturbances associated with KCNJ11-related neonatal diabetes.
Landmeier KA, Lanning M, Carmody D, Greeley SAW, Msall ME
Pediatr Diabetes 2017 Nov;18(7):518-523. Epub 2016 Aug 24 doi: 10.1111/pedi.12428. PMID: 27555491Free PMC Article
Permanent neonatal diabetes: different aetiology in Arabs compared to Europeans.
Habeb AM, Flanagan SE, Deeb A, Al-Alwan I, Alawneh H, Balafrej AA, Mutair A, Hattersley AT, Hussain K, Ellard S
Arch Dis Child 2012 Aug;97(8):721-3. doi: 10.1136/archdischild-2012-301744. PMID: 22859427
New ABCC8 mutations in relapsing neonatal diabetes and clinical features.
Vaxillaire M, Dechaume A, Busiah K, Cavé H, Pereira S, Scharfmann R, de Nanclares GP, Castano L, Froguel P, Polak M; SUR1-Neonatal Diabetes Study Group
Diabetes 2007 Jun;56(6):1737-41. Epub 2007 Mar 27 doi: 10.2337/db06-1540. PMID: 17389331
ATP and sulfonylurea sensitivity of mutant ATP-sensitive K+ channels in neonatal diabetes: implications for pharmacogenomic therapy.
Koster JC, Remedi MS, Dao C, Nichols CG
Diabetes 2005 Sep;54(9):2645-54. doi: 10.2337/diabetes.54.9.2645. PMID: 16123353

Diagnosis

Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience.
Laimon W, El-Ziny M, El-Hawary A, Elsharkawy A, Salem NA, Aboelenin HM, Awad MH, Flanagan SE, De Franco E
Acta Diabetol 2021 Dec;58(12):1689-1700. Epub 2021 Aug 23 doi: 10.1007/s00592-021-01788-6. PMID: 34426871
Hyperinsulinism in the Neonate.
Lord K, De León DD
Clin Perinatol 2018 Mar;45(1):61-74. Epub 2017 Dec 6 doi: 10.1016/j.clp.2017.10.007. PMID: 29406007
Neonatal Diabetes and the K(ATP) Channel: From Mutation to Therapy.
Ashcroft FM, Puljung MC, Vedovato N
Trends Endocrinol Metab 2017 May;28(5):377-387. Epub 2017 Mar 3 doi: 10.1016/j.tem.2017.02.003. PMID: 28262438Free PMC Article
Molecular and clinical features of K(ATP) -channel neonatal diabetes mellitus in Japan.
Hashimoto Y, Dateki S, Hirose M, Satomura K, Sawada H, Mizuno H, Sugihara S, Maruyama K, Urakami T, Sugawara H, Shirai K, Yorifuji T
Pediatr Diabetes 2017 Nov;18(7):532-539. Epub 2016 Sep 29 doi: 10.1111/pedi.12447. PMID: 27681997
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
Edghill EL, Flanagan SE, Ellard S
Rev Endocr Metab Disord 2010 Sep;11(3):193-8. doi: 10.1007/s11154-010-9149-x. PMID: 20922570

Therapy

Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of K(ATP)-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital.
Ngoc CTB, Dien TM, De Franco E, Ellard S, Houghton JAL, Lan NN, Thao BP, Khanh NN, Flanagan SE, Craig ME, Dung VC
Front Endocrinol (Lausanne) 2021;12:727083. Epub 2021 Sep 9 doi: 10.3389/fendo.2021.727083. PMID: 34566892Free PMC Article
Hyperinsulinism in the Neonate.
Lord K, De León DD
Clin Perinatol 2018 Mar;45(1):61-74. Epub 2017 Dec 6 doi: 10.1016/j.clp.2017.10.007. PMID: 29406007
Neonatal Diabetes and the K(ATP) Channel: From Mutation to Therapy.
Ashcroft FM, Puljung MC, Vedovato N
Trends Endocrinol Metab 2017 May;28(5):377-387. Epub 2017 Mar 3 doi: 10.1016/j.tem.2017.02.003. PMID: 28262438Free PMC Article
Molecular and clinical features of K(ATP) -channel neonatal diabetes mellitus in Japan.
Hashimoto Y, Dateki S, Hirose M, Satomura K, Sawada H, Mizuno H, Sugihara S, Maruyama K, Urakami T, Sugawara H, Shirai K, Yorifuji T
Pediatr Diabetes 2017 Nov;18(7):532-539. Epub 2016 Sep 29 doi: 10.1111/pedi.12447. PMID: 27681997
New ABCC8 mutations in relapsing neonatal diabetes and clinical features.
Vaxillaire M, Dechaume A, Busiah K, Cavé H, Pereira S, Scharfmann R, de Nanclares GP, Castano L, Froguel P, Polak M; SUR1-Neonatal Diabetes Study Group
Diabetes 2007 Jun;56(6):1737-41. Epub 2007 Mar 27 doi: 10.2337/db06-1540. PMID: 17389331

Prognosis

Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of K(ATP)-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital.
Ngoc CTB, Dien TM, De Franco E, Ellard S, Houghton JAL, Lan NN, Thao BP, Khanh NN, Flanagan SE, Craig ME, Dung VC
Front Endocrinol (Lausanne) 2021;12:727083. Epub 2021 Sep 9 doi: 10.3389/fendo.2021.727083. PMID: 34566892Free PMC Article
Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience.
Laimon W, El-Ziny M, El-Hawary A, Elsharkawy A, Salem NA, Aboelenin HM, Awad MH, Flanagan SE, De Franco E
Acta Diabetol 2021 Dec;58(12):1689-1700. Epub 2021 Aug 23 doi: 10.1007/s00592-021-01788-6. PMID: 34426871
An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.
Masia R, Koster JC, Tumini S, Chiarelli F, Colombo C, Nichols CG, Barbetti F
Diabetes 2007 Feb;56(2):328-36. doi: 10.2337/db06-1275. PMID: 17259376
ATP and sulfonylurea sensitivity of mutant ATP-sensitive K+ channels in neonatal diabetes: implications for pharmacogenomic therapy.
Koster JC, Remedi MS, Dao C, Nichols CG
Diabetes 2005 Sep;54(9):2645-54. doi: 10.2337/diabetes.54.9.2645. PMID: 16123353
Focus on Kir6.2: a key component of the ATP-sensitive potassium channel.
Haider S, Antcliff JF, Proks P, Sansom MS, Ashcroft FM
J Mol Cell Cardiol 2005 Jun;38(6):927-36. doi: 10.1016/j.yjmcc.2005.01.007. PMID: 15910877

Clinical prediction guides

Molecular and clinical features of K(ATP) -channel neonatal diabetes mellitus in Japan.
Hashimoto Y, Dateki S, Hirose M, Satomura K, Sawada H, Mizuno H, Sugihara S, Maruyama K, Urakami T, Sugawara H, Shirai K, Yorifuji T
Pediatr Diabetes 2017 Nov;18(7):532-539. Epub 2016 Sep 29 doi: 10.1111/pedi.12447. PMID: 27681997
Permanent neonatal diabetes: different aetiology in Arabs compared to Europeans.
Habeb AM, Flanagan SE, Deeb A, Al-Alwan I, Alawneh H, Balafrej AA, Mutair A, Hattersley AT, Hussain K, Ellard S
Arch Dis Child 2012 Aug;97(8):721-3. doi: 10.1136/archdischild-2012-301744. PMID: 22859427
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
Flanagan SE, Patch AM, Mackay DJ, Edghill EL, Gloyn AL, Robinson D, Shield JP, Temple K, Ellard S, Hattersley AT
Diabetes 2007 Jul;56(7):1930-7. Epub 2007 Apr 19 doi: 10.2337/db07-0043. PMID: 17446535Free PMC Article
ATP and sulfonylurea sensitivity of mutant ATP-sensitive K+ channels in neonatal diabetes: implications for pharmacogenomic therapy.
Koster JC, Remedi MS, Dao C, Nichols CG
Diabetes 2005 Sep;54(9):2645-54. doi: 10.2337/diabetes.54.9.2645. PMID: 16123353
Focus on Kir6.2: a key component of the ATP-sensitive potassium channel.
Haider S, Antcliff JF, Proks P, Sansom MS, Ashcroft FM
J Mol Cell Cardiol 2005 Jun;38(6):927-36. doi: 10.1016/j.yjmcc.2005.01.007. PMID: 15910877

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