Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2025 Jan-Dec:13:23247096251368092.
doi: 10.1177/23247096251368092. Epub 2025 Aug 21.

De Novo KCNJ11 Mutation in an Infant With Neonatal Diabetes Mellitus Presenting as Diabetic Ketoacidosis: A Case Report and Literature Review

Ramzi H Mujahed  1   2 , Amal M Shawabka  1 , Natalia M Daghlis  1 , Amal A Thweib  1 , Howaida A Rabba  1 , Taha Z Makhlouf  1
Affiliations
Review

De Novo KCNJ11 Mutation in an Infant With Neonatal Diabetes Mellitus Presenting as Diabetic Ketoacidosis: A Case Report and Literature Review

Ramzi H Mujahed et al. J Investig Med High Impact Case Rep. 2025 Jan-Dec.

Abstract

Neonatal diabetes mellitus (NDM) is a rare metabolic disorder that develops within the first 6 months of life and can have a wide clinical presentation which includes diabetic ketoacidosis (DKA). We describe a 56-day-old female with permanent NDM whose clinical presentation included polyuria, fever, vomiting, and dehydration. Laboratory workup indicated DKA. The patient started her treatment with subcutaneous insulin, but her blood sugar level was poorly controlled. She was later found to have a KCNJ11 mutation and was subsequently switched to sulfonylurea, which offered better control of blood sugars. Our case highlights the importance of recognizing signs and symptoms such as polyuria and vomiting along with the profound impact of genetic changes such as KCNJ11 in the pathophysiology of the condition. Genetic counseling is necessary for affected families, and increases awareness of potential complications, particularly those related to DKA and associated neurological risks.

Keywords: K-ATP; KCNJ11; diabetic ketoacidosis; neonatal diabetes; sulfonylurea.

PubMed Disclaimer

Conflict of interest statement

Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

“Comparison of baseline and 25 units above basal post-exposure glucose levels for subjects on sulfonylurea and insulin treatment.”
Figure 1.
Comparison of serum random glucose levels before (on insulin) and after (on sulfonylurea) therapy.
See this image and copyright information in PMC

References

    1. Golshan-Tafti M, Dastgheib SA, Bahrami R, et al. Genetic underpinnings of neonatal diabetes: a review of current research. Egypt J Med Hum Genet. 2024;25:119.
    1. De Franco E, Saint-Martin C, Brusgaard K, et al. Update of variants identified in the pancreatic β-cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. Hum Mutat. 2020;41:884-905. - PMC - PubMed
    1. Sanyoura M, Philipson LH, Naylor R. Monogenic diabetes in children and adolescents: recognition and treatment options. Curr Diab Rep. 2018;18:58. - PMC - PubMed
    1. Al Homyani DK, Al Homaiani L. Not all diabetic ketoacidosis in infant is type 1: a case report permanent neonatal diabetes. AACE Clin Case Rep. 2024;10:7-9. - PMC - PubMed
    1. Marakkar S, Soodhana D, Apala S, et al. Case of neonatal diabetes mellitus due to KCNJ11 mutation: therapeutic implications of a genetic diagnosis. Pediatr Comp. 2023;2:44-46.

MeSH terms

Supplementary concepts

LinkOut - more resources