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

Journal of Pediatric Endocrinology & Metabolism : JPEM
Miaoying ZhangFeihong Luo

Abstract

The pathogenic base of neonatal diabetes mellitus (NDM) is highly heterogeneous. Sulfonylurea (SU) has been successfully applied in majority of NDM patients with KATP channel mutations; however, its rationality and effectiveness among patients with NDM stemmed from other genetic mutations have not been established. The objective of the present study was to investigate the effectiveness of SU therapy in NDM patients with heterogeneous genetic backgrounds. We identified 16 patients with NDM. These patients underwent SU titration and were followed after successful SU monotherapy. All patients were sequenced for all exons and adjacent intron-exon junctions of ABCC8, KCNJ11, and INS, and analyzed for 6q24 methylation defects. SU regimens were applied and glycemic status was evaluated in each patient. Of the 16 patients, 15 (94%) reached glycemic goal (7-10 mmol/L) after SU monotherapy except one patient with the INS mutation. No significant side effects or organ damage were found in any of the 16 patients. Among these patients, five were found to harbor ABCC8 mutations, another five had mutations in KCNJ11, two had INS gene mutations, one with 6q24 hypomethylation, and three were absent for defects in genes tested. Our study showed ...Continue Reading

References

Aug 28, 2003·The Journal of Biological Chemistry·Andrey P Babenko, Joseph Bryan
Mar 12, 2004·Seminars in Neonatology : SN·Michel Polak, Julian Shield
Jul 14, 2005·Current Opinion in Pediatrics·Mark A Sperling
Aug 4, 2006·The New England Journal of Medicine·Ewan R PearsonUNKNOWN Neonatal Diabetes International Collaborative Group
Sep 14, 2006·Fetal Diagnosis and Therapy·William H PeranteauN Scott Adzick
Jun 23, 2007·Human Molecular Genetics·Peter ProksFrances M Ashcroft
Sep 15, 2007·Proceedings of the National Academy of Sciences of the United States of America·Julie StøyUNKNOWN Neonatal Diabetes International Collaborative Group
Mar 1, 2008·Diabetic Medicine : a Journal of the British Diabetic Association·A S SlingerlandM Hadders-Algra
Apr 26, 2008·Endocrine Reviews·Lydia Aguilar-Bryan, Joseph Bryan
May 19, 2009·Clinical Therapeutics·Lindsey A Loomba-AlbrechtAndrew A Bremer
Nov 19, 2009·Pflügers Archiv : European journal of physiology·Maria S Remedi, Joseph C Koster
Dec 3, 2009·American Journal of Physiology. Endocrinology and Metabolism·Sindhu RajanLouis H Philipson
Jan 29, 2010·Diabetes Care·UNKNOWN American Diabetes Association
Dec 1, 2010·Archives of Disease in Childhood. Fetal and Neonatal Edition·Kathryn BeardsallCarlo L Acerini
Dec 11, 2013·JAMA Pediatrics·Matthew M LaughonWilliam Rodriguez

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Citations

Jul 25, 2015·Journal of Pediatric Endocrinology & Metabolism : JPEM·Evgenia GlobaSian Ellard
Sep 30, 2016·Pediatric Diabetes·Yukiko HashimotoTohru Yorifuji
Mar 30, 2017·Journal of Pediatric Endocrinology & Metabolism : JPEM·Ranjit I KylatMohammed Y Bader
Nov 17, 2016·Journal of Pediatric Endocrinology & Metabolism : JPEM·Elif OzsuSenthil Senniappan
Apr 23, 2020·Cells·Linn Amanda SydingRadislav Sedlacek
May 21, 2021·Diabetes/metabolism Research and Reviews·Marijke TimmersChristophe De Block

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