Neonatal diabetes: case report and topic review.

Main Article Content

Carlos Andrés Sánchez Pinzón
Cindy Margarita Atencia Herrera
María Margarita Sánchez Tordecilla
María del Pilar Hoyos Zapata
Mary Juliana Zapata Gelvez
Juan David Vega Padilla

Abstract

Background: Neonatal diabetes is defined as persistent hyperglycemia that occurs most frequently before six months of age, and its incidence is 1 case per 90,000 to 160,000 births. Neonatal diabetes is associated with pathogenic variants in a single gene, causing hyperglycemia, intrauterine growth restriction, low birth weight, and neurodevelopmental abnormalities. It is classified as transient, permanent, or syndromic. Insulins are the initial treatment; sulfonylureas have proven effective for controlling hyperglycemia due to etiology originating in the KCNJ11 and ABCC8 genes. Sulfonylureas improve motor ability and neurodevelopment, primarily if the disease is related to KCNJ11. Case report: Male neonate diagnosed with neonatal diabetes due to persistent hyperglycemia three weeks after birth, in which the ABCC8 gene mutation was confirmed. A multidisciplinary group is monitoring him. Treatment was characterized by using insulin glulisine, insulin glargine, and the transition to management with sulfonylurea. Glycemic control has been achieved without compromise in neurodevelopment and with satisfactory growth at follow-up.


Conclusions: This case report describes the clinical and genetic diagnosis of DN due to ABCC8 gene mutation, where clinical characteristics of the disease can be observed, such as intrauterine growth restriction, low birth weight, hyperglycemia that requires treatment with insulins, diagnostic confirmation through medical genetics and treatment consistent with the transition from insulin use to sulfonylurea management.

Downloads

Download data is not yet available.

Article Details

How to Cite
Sánchez Pinzón, C. A., Atencia Herrera, C. M., Sánchez Tordecilla, M. M., Hoyos Zapata, M. del P., Zapata Gelvez, M. J., & Vega Padilla, J. D. (2023). Neonatal diabetes: case report and topic review. Pediatría, 56(2), e430. https://doi.org/10.14295/rp.v56i2.430
Section
Case report

References

Hammoud B, Greeley SAW. Growth and development in monogenic forms of neonatal diabetes. Curr Opin Endocrinol Diabetes Obes 2022, vol. 29, no 1, p. 65-77. DOI: https://doi.org/10.1097/MED.0000000000000699

Beltrand J, Busiah K, Vaivre-Douret L, Fauret AL, Berdugo M, Cavé H, Polak M. Neonatal diabetes mellitus. Front Pediatr 2020, p 602. DOI: https://doi.org/10.3389/fped.2020.540718

De León DD, Stanley CA. Permanent Neonatal Diabetes Mellitus. 2008 Feb 8 [updated 2016 Jul 29]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022.

Harris A, Naylor RN. Pediatric monogenic diabetes: a unique challenge and opportunity. Pediatr Ann 2019, 48(8), e319-e325. DOI: https://doi.org/10.3928/19382359-20190730-02

Dahl A, Kumar S. Recent advances in neonatal diabetes. Diabetes Metab Syndr Obes 2020, vol. 13, p. 355. DOI: https://doi.org/10.2147/DMSO.S198932

Tamaroff J, Kilberg M, Pinney SE, McCormack S. Overview of atypical diabetes. Endocrinol Metab Clin North Am 2020, 49(4), 695-723. DOI: https://doi.org/10.1016/j.ecl.2020.07.004

De Franco E. Neonatal diabetes caused by disrupted pancreatic and β‐cell development. Diabet Med 2021, vol. 38, no 12, p. e14728. DOI: https://doi.org/10.1111/dme.14728

Pipatpolkai T, Usher S, Stansfeld, PJ, Ashcroft FM. New insights into KATP channel gene mutations and neonatal diabetes mellitus. Nat Rev Endocrinol 2020, 16(7), 378-393. DOI: https://doi.org/10.1038/s41574-020-0351-y

Nicolaides NC, Kanaka-Gantenbein C, Papadopoulou-Marketou N, Sertedaki A., Chrousos GP, Papassotiriou I. Emerging technologies in pediatrics: the paradigm of neonatal diabetes mellitus. Crit Rev Clin Lab Sci 2020, 57(8), 522-531. DOI: https://doi.org/10.1080/10408363.2020.1752141

Letourneau LR, Greeley SAW. Precision medicine: Long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations. Curr Diab Rep 2019,19(8), 1-9. DOI: https://doi.org/10.1007/s11892-019-1175-9

Zübarioğlu AU, Bülbül A, Uslu HS. Neonatal Diabetes Mellitus. Sisli Etfal Hastan Tip Bul 2018, 52(2), 71. DOI: https://doi.org/10.14744/SEMB.2017.51422

Lemelman MB, Letourneau L, Greeley SAW. Neonatal diabetes mellitus: an update on diagnosis and management. Clin Perinatol 2018, 45(1), 41-59. DOI: https://doi.org/10.1016/j.clp.2017.10.006

Julier C, Nicolino M. Wolcott-Rallison syndrome. Orphanet J Rare Dis. 2010 Nov 4;5:29. . DOI: https://doi.org/10.1186/1750-1172-5-29

Ben-Skowronek I. IPEX Syndrome: Genetics and Treatment Options. Genes (Basel). 2021 Feb 24;12(3):323. DOI: https://doi.org/10.3390/genes12030323

Rabbone I, Barbetti F, Gentilella R, Mossetto G, Bonfanti R, Maffeis C, Iafusco D, Piccinno E. Insulin therapy in neonatal diabetes mellitus: a review of the literature. Diabetes Res Clin Pract. 2017 Jul;129:126-135. DOI: https://doi.org/10.1016/j.diabres.2017.04.007

Similar Articles

<< < 19 20 21 22 23 24 

You may also start an advanced similarity search for this article.