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International Journal of Pediatric Endocrinology

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Open Access 01-12-2012 | Case report

Neonatal diabetes mellitus and congenital diaphragmatic hernia: coincidence or concurrent etiology?

Authors: Emmanuelle S Topiol, Laurie A Minarich, Charles A Williams, Roberto T Zori, David W Kays, Michael J Haller

Published in: International Journal of Pediatric Endocrinology | Issue 1/2012

Abstract

Neonatal diabetes mellitus (NDM) is a rare metabolic disorder, affecting approximately 1 in 500,000 live births. The management of NDM is challenging, as the benefits of controlling hyperglycemia must be balanced with the risks of iatrogenic hypoglycemia. NDM occurs in both permanent and transient forms, which have been genetically and phenotypically well characterized. Herein, we present the previously unreported combination of transient NDM (TNDM) and congenital diaphragmatic hernia (CDH). In addition to reviewing the management and genetics of NDM we discuss the potential for overlapping genetic or embryologic abnormalities to explain the concurrence of CDH and NDM.

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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: 1359-1366. 10.2337/diabetes.49.8.1359.CrossRefPubMed

Bielinska M, Jay PY, Erlich JM, Mannisto S, Urban Z, Heikinheimo M, Wilson DB: Molecular genetics of congenital diaphragmatic defects. Ann Med. 2007, 39: 261-274. 10.1080/07853890701326883.PubMedCentralCrossRefPubMed

Masia R, Koster JC, Tumini S, Chiarelli F, Colombo C, Nichols CG, Barbetti F: An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes. Diabetes. 2007, 56: 328-336. 10.2337/db06-1275.CrossRefPubMed

Kotecha S, Barbato A, Bush A, Claus F, Davenport M, Delacourt C, Deprest J, Eber E, Frenckner B, Greenough A: Congenital diaphragmatic hernia. Eur Respir J. 2012, 39: 820-829. 10.1183/09031936.00066511.CrossRefPubMed

Hosgor M, Karaca I, Karkiner A, Ucan B, Temir G, Erdag G, Fescekoglu O: Associated malformations in delayed presentation of congenital diaphragmatic hernia. J Pediatr Surg. 2004, 39: 1073-1076. 10.1016/j.jpedsurg.2004.03.050.CrossRefPubMed

Tubiana-Rufi N: Insulin pump therapy in neonatal diabetes. Endocr Dev. 2007, 12: 67-74.CrossRefPubMed

Temple IK, Mackay DJG: Diabetes Mellitus, 6q24-Related Transient Neonatal. GeneReviews™ [Internet]. Edited by: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP. 1993, University of Washington, Seattle, Seattle (WA), 1993-2005 Oct 10 [updated 2010 Dec 23]

Shield JP, Gardner RJ, Wadsworth EJ, Whiteford ML, James RS, Robinson DO, Baum JD, Temple IK: Aetiopathology and genetic basis of neonatal diabetes. Arch Dis Child Fetal Neonatal Ed. 1997, 76: F39-42. 10.1136/fn.76.1.F39.PubMedCentralCrossRefPubMed

Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, Surti U: Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. Am J Med Genet A. 2011, 155 (8): 1996-2002. 10.1002/ajmg.a.34106.CrossRef

10.

Das S, Lese CM, Song M, Jensen JL, Wells LA, Barnoski BL, Roseberry JA, Camacho JM, Ledbetter DH, Schnur RE: Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities. Am J Hum Genet. 2000, 67: 1586-1591. 10.1086/316897.PubMedCentralCrossRefPubMed

11.

Milenkovic T, Martic J, Robinson DO, Mackay DJ, Petrovic K, Zdravkovic D: Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24. J Pediatr Endocrinol Metab. 2006, 19: 1353-1357.CrossRefPubMed

12.

Suzuki S, Fujisawa D, Hashimoto K, Asano T, Maimaiti M, Matsuo K, Tanahashi Y, Mukai T, Fujieda K: Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia. Clin Genet. 2010, 78: 580-584. 10.1111/j.1399-0004.2010.01433.x.CrossRefPubMed

13.

Diatloff-Zito C, Nicole A, Marcelin G, Labit H, Marquis E, Bellanne-Chantelot C, Robert JJ: Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region. J Med Genet. 2007, 44: 31-37.PubMedCentralCrossRefPubMed

14.

Karges B, Meissner T, Icks A, Kapellen T, Holl RW: Management of diabetes mellitus in infants. Nat Rev Endocrinol. 2012, 8: 201-211. 10.1038/nrendo.2011.204.CrossRef

15.

Veenma DC, de Klein A, Tibboel D: Developmental and genetic aspects of congenital diaphragmatic hernia. Pediatr Pulmonol. 2012, 47 (6): 534-45. 10.1002/ppul.22553.CrossRefPubMed

16.

Temple I: Imprinting in Human Disease with Special Reference to Transient Neonatal Diabetes and Beckwith-Wiedemann Syndrome. Development of the Pancreas and Neonatal Diabetes. Endocr Dev. Edited by: Scharfmann R, Shield J. 2007, Karger, Basel, 113-123. 12CrossRef

Title: Neonatal diabetes mellitus and congenital diaphragmatic hernia: coincidence or concurrent etiology?
Authors: Emmanuelle S Topiol
Laurie A Minarich
Charles A Williams
Roberto T Zori
David W Kays
Michael J Haller
Publication date: 01-12-2012
Publisher: BioMed Central
Published in: International Journal of Pediatric Endocrinology / Issue 1/2012
Electronic ISSN: 1687-9856
DOI: https://doi.org/10.1186/1687-9856-2012-21

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Neonatal diabetes mellitus and congenital diaphragmatic hernia: coincidence or concurrent etiology?

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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