Case Study: Transitioning From Insulin to Glyburide in Permanent Neonatal Diabetes: Medical and Psychosocial Challenges in an 18-Year-Old Male
Year: 2009
Type: article
Study design: Case Report
Abstract: Presentation D.R., an 18-year-old man diagnosed with insulin-dependent diabetes as an infant, was identified as an appropriate candidate for genetic testing based on publications identifying a monogenic cause of diabetes in patients diagnosed in the first 6 months of life.1,2 As a 2.78-kg full-term infant (in the third percentile for weight with intrauterine growth retardation), D.R. initially presented in the Emergency Department at 3 weeks of age with a blood glucose level of 571 mg/dl after 1 week of increased irritability, crying, and decreased oral intake.He was initiated on conventional splitmixed insulin (NPH/regular) twice daily and has been followed ever since by the diabetes team in a large pediatric hospital.Notable history includes moderate developmental delays in reading, writing, and fine and gross motor skills and an identified learning disability in mathematics.Medical history is significant for two presumed hypoglycemic seizures.At the time of D.R.'s diagnosis, permanent neonatal diabetes mellitus (PNDM) was medically treated as type 1 diabetes.However, in 2004, a specific genetic mutation (KCNJ11 gene) was identified as the cause of neonatal diabetes, and ensuing research confirmed that high doses of oral sulfonylureas are successful in managing neonatal diabetes in selected patients.1,2 When D.R. was 18 years old, PNDM attributed to the KCNJ11 R201H (heterozygous) mutation was confirmed by a saliva sample sent for Institutional Review Board-approved researchbased analysis at the University of Chicago Diabetes Research and Training Center and follow-up serum analysis performed by the Clinical Laboratory Improvement Amendments-approved University of Chicago Genetics Services Laboratory.Treatment options were discussed and, after informed consent, D.R. chose a longer outpatient transition rather than completing the transition in an inpatient clinical research unit.Thereafter, the transition from insulin to glyburide was initiated based on the outpatient protocol described by Pearson et al. 2 along with personal communication from Ewan Pearson, MRCP, PhD, and Andrew Hattersley, DM, FRCP, in July 2006 and June 2007, respectively, and modifications by Louis Philipson, MD, PhD, in July 2006.These personal communications provided additional information to assist in the transition from insulin to glyburide in an outpatient setting.Specific instructions in terms of the choice of sulfonylurea (glyburide) and typical range of glyburide required (0.13-1.2 mg/kg body weight/day) with the possibility of amounts up to 1.5 mg/kg/day were recommended.An outpatient schedule documenting glyburide Volume 27, Number 1, 2009 • CliniCal Diabetes
Source: Clinical Diabetes
Language: English
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W2125803450