Article Text

NEONATAL DIABETES DUE TO KCNJ11 MUTATION IN A 3-MONTH-OLD GIRL: CASE REPORT
  1. M B Sampaio1,
  2. A I Oliveira2,
  3. A Afonso1,
  4. A Teixeira3,
  5. C C Correia3,
  6. M Fontoura3
  1. 1Paediatric Department, São Marcos Hospital, Braga, Portugal
  2. 2Endocrinology Department, São João Hospital, Porto, Portugal
  3. 3Paediatric Department, São João Hospital, Porto, Portugal

Abstract

Neonatal diabetes mellitus (diabetes mellitus occurring before 6 months of age) is a rare disease caused in most cases by mutations at specific genetic loci.

A 3-month old toddler, developed irritability and labored breathing. On initial presentation to her local emergency department, she was afebrile, heart rate was 120 bpm, BP: 98/56 mmHg, and respiratory rate: 64 bpm. Physical examination was notable for prostration, dehydration and rapid deep breathing. Initial laboratory work revealed a glucose level of 1040 mg/dL, a venous pH of 7.08, and the presence of glucose and ketones in her urine. She received normal saline bolus and she was transported to our hospital. Upon her arrival, she spent four days in the Intensive Care Pediatric Unit until estabilization. At the fifth day she was transferred to the hospital ward were she began subcutaneous insulin. Her abdominal ultrasound revealed a normal pancreas. C Peptide was 0.47 ng/ml and HbA1c was 13.9%. The patient was discharged after 26 days on 2.5+1.5 units of intermediate insulin daily, with an additional 0.5–2 units daily of insulin aspartic as required to treat hyperglycemia. Testing for mutations associated with permanent neonatal diabetes identified a mutation in the KCNJ11 gene.

There have been reports of the successful transition from insulin to sulfonylurea agents in patients with PND caused by mutations in the KCNJ11 gene. The Hospital São João Ethics Commission has been asked about the beginning of sulfonylurea and we hope to successfully change the diabetic medication into an oral one.

Statistics from Altmetric.com

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.