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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.

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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

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References

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