Literature DB >> 26208381

Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.

Evgenia Globa, Nataliya Zelinska, Deborah J G Mackay, Karen I Temple, Jayne A L Houghton, Andrew T Hattersley, Sarah E Flanagan, Sian Ellard.   

Abstract

BACKGROUND: Neonatal diabetes has not been previously studied in Ukraine. We investigated the genetic etiology in patients with onset of diabetes during the first 9 months of life.
METHODS: We established a Pediatric Diabetes Register to identify patients diagnosed with diabetes before 9 months of age. Genetic testing was undertaken for 42 patients with permanent or transient diabetes diagnosed within the first 6 months of life (n=22) or permanent diabetes diagnosed between 6 and 9 months (n=20).
RESULTS: We determined the genetic etiology in 23 of 42 (55%) patients; 86% of the patients diagnosed before 6 months and 20% diagnosed between 6 and 9 months. The incidence of neonatal diabetes in Ukraine was calculated to be 1 in 126,397 live births.
CONCLUSIONS: Genetic testing for patients identified through the Ukrainian Pediatric Diabetes Register identified KCNJ11 and ABCC8 mutations as the most common cause (52%) of neonatal diabetes. Transfer to sulfonylureas improved glycemic control in all 11 patients.

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Year:  2015        PMID： 26208381      PMCID： PMC4860009          DOI： 10.1515/jpem-2015-0170

Source DB:  PubMed          Journal:  J Pediatr Endocrinol Metab        ISSN： 0334-018X            Impact factor:   1.634


  31 in total

1.  Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene.

Authors:  A S Slingerland; R Nuboer; M Hadders-Algra; A T Hattersley; G J Bruining
Journal:  Diabetologia       Date:  2006-09-19       Impact factor: 10.122

2.  Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds.

Authors:  Miaoying Zhang; Xiuli Chen; Shuixian Shen; Tang Li; Linqi Chen; Min Hu; Lingfeng Cao; Ruoqian Cheng; Zhuhui Zhao; Feihong Luo
Journal:  J Pediatr Endocrinol Metab       Date:  2015-07       Impact factor: 1.634

3.  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.

Authors:  T Klupa; E L Edghill; J Nazim; J Sieradzki; S Ellard; A T Hattersley; M T Malecki
Journal:  Diabetologia       Date:  2005-04-19       Impact factor: 10.122

4.  Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes.

Authors:  I K Temple; R J Gardner; D J Mackay; J C Barber; D O Robinson; J P Shield
Journal:  Diabetes       Date:  2000-08       Impact factor: 9.461

5.  KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

Authors:  Ornella Massa; Dario Iafusco; Elena D'Amato; Anna L Gloyn; Andrew T Hattersley; Bruno Pasquino; Giorgio Tonini; Francesco Dammacco; Giorgio Zanette; Franco Meschi; Ottavia Porzio; Gianfranco Bottazzo; Antonino Crinó; Renata Lorini; Franco Cerutti; Maurizio Vanelli; Fabrizio Barbetti
Journal:  Hum Mutat       Date:  2005-01       Impact factor: 4.878

6.  Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2.

Authors:  Amnon Zung; Benjamin Glaser; Revital Nimri; Zvi Zadik
Journal:  J Clin Endocrinol Metab       Date:  2004-11       Impact factor: 5.958

7.  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

8.  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

9.  Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation.

Authors:  N Zwaveling-Soonawala; E E Hagebeuk; A S Slingerland; C Ris-Stalpers; T Vulsma; A S van Trotsenburg
Journal:  Diabetologia       Date:  2010-11-26       Impact factor: 10.122

Review 10.  Genetics and pathophysiology of neonatal diabetes mellitus.

Authors:  Rochelle N Naylor; Siri Atma W Greeley; Graeme I Bell; Louis H Philipson
Journal:  J Diabetes Investig       Date:  2011-06-05       Impact factor: 4.232
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  11 in total

Review 1.  Congenital forms of diabetes: the beta-cell and beyond.

Authors:  Lisa R Letourneau; Siri Atma W Greeley
Journal:  Curr Opin Genet Dev       Date:  2018-02-16       Impact factor: 5.578

2.  Incidence, prevalence and genetic determinants of neonatal diabetes mellitus: a systematic review and meta-analysis protocol.

Authors:  Jobert Richie N Nansseu; Suzanne S Ngo-Um; Eric V Balti
Journal:  Syst Rev       Date:  2016-11-10

3.  Sulfonylurea for the treatment of neonatal diabetes owing to KATP-channel mutations: a systematic review and meta-analysis.

Authors:  Hongliang Zhang; Xiaobin Zhong; Zhenguang Huang; Chun Huang; Taotao Liu; Yue Qiu
Journal:  Oncotarget       Date:  2017-11-20

4.  Identification of GCK-maturity-onset diabetes of the young in cases of neonatal hyperglycemia: A case series and review of clinical features.

Authors:  Alice E Hughes; Elisa De Franco; Evgenia Globa; Nataliya Zelinska; Dörte Hilgard; Popi Sifianou; Andrew T Hattersley; Sarah E Flanagan
Journal:  Pediatr Diabetes       Date:  2021-06-10       Impact factor: 3.409

5.  Genetic Spectrum of Neonatal Diabetes.

Authors:  M Kocova
Journal:  Balkan J Med Genet       Date:  2021-03-23       Impact factor: 0.519

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

Authors:  Meng Li; Xueyao Han; Linong Ji
Journal:  J Diabetes Res       Date:  2021-09-30       Impact factor: 4.011

7.  Genetic Etiology of Neonatal Diabetes Mellitus in Vietnamese Infants and Characteristics of Those With INS Gene Mutations.

Authors:  Can Thi Bich Ngoc; Vu Chi Dung; Elisa De Franco; Nguyen Ngoc Lan; Bui Phuong Thao; Nguyen Ngoc Khanh; Sarah E Flanagan; Maria E Craig; Nguyen Huy Hoang; Tran Minh Dien
Journal:  Front Endocrinol (Lausanne)       Date:  2022-04-19       Impact factor: 6.055

Review 8.  New insights into KATP channel gene mutations and neonatal diabetes mellitus.

Authors:  Tanadet Pipatpolkai; Samuel Usher; Phillip J Stansfeld; Frances M Ashcroft
Journal:  Nat Rev Endocrinol       Date:  2020-05-06       Impact factor: 43.330

9.  Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells.

Authors:  Matthew B Johnson; Kashyap A Patel; Elisa De Franco; William Hagopian; Michael Killian; Timothy J McDonald; Timothy I M Tree; Clara Domingo-Vila; Michelle Hudson; Suzanne Hammersley; Rebecca Dobbs; Sian Ellard; Sarah E Flanagan; Andrew T Hattersley; Richard A Oram
Journal:  Diabetologia       Date:  2020-10-08       Impact factor: 10.122

10.  Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital.

Authors:  Can Thi Bich Ngoc; Tran Minh Dien; Elisa De Franco; Sian Ellard; Jayne A L Houghton; Nguyen Ngoc Lan; Bui Phuong Thao; Nguyen Ngoc Khanh; Sarah E Flanagan; Maria E Craig; Vu Chi Dung
Journal:  Front Endocrinol (Lausanne)       Date:  2021-09-09       Impact factor: 5.555
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