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Diabetic ketoacidosis in cystic fibrosis
A B Atlas1, D N Finegold, D Becker
1Department of Pediatrics, Children's Hospital of Pittsburgh, Pa.
Insights
This case study differentiates cystic fibrosis-related diabetes from type I diabetes mellitus. It highlights the importance of immunologic and genetic markers in diagnosing type I diabetes in cystic fibrosis patients.
Area of Science:
- Endocrinology
- Genetics
- Pulmonology
Background:
- Cystic fibrosis (CF) is a genetic disorder affecting multiple organs, including the pancreas, leading to glucose intolerance.
- Distinguishing CF-related diabetes from type I diabetes mellitus (T1DM) is crucial for appropriate management.
Observation:
- An 11-year-old boy with CF presented with diabetic ketoacidosis, hyperglycemia, ketonemia, and ketonuria.
- Biochemical, immunologic, and molecular analyses were performed.
Findings:
- CF was confirmed by sweat test and F508 locus deletion.
- T1DM diagnosis was supported by clinical presentation, anti-insulin antibodies, and homozygous absence of aspartic acid at HLA DQ-beta position 57, indicating high T1DM risk.
- These findings support the co-occurrence of CF and T1DM.
Implications:
- This case underscores the need for comprehensive diagnostic approaches in CF patients with glucose intolerance.
- Early and accurate diagnosis of T1DM in CF patients can guide personalized treatment strategies.
- Understanding the genetic predisposition to T1DM in CF may inform future research and therapeutic interventions.
Objective:
To differentiate the insulin-dependent glucose intolerance associated with cystic fibrosis from type I diabetes mellitus in patients with cystic fibrosis.
Design:
Patient report.
Setting:
Tertiary care referral center.
Participant:
An 11-year-old boy with cystic fibrosis who developed diabetic ketoacidosis. MEASUREMENT/MAIN RESULT: Biochemical, immunologic, and molecular techniques were used to support the sporadic association of type I diabetes mellitus in a patient with cystic fibrosis. Cystic fibrosis was confirmed by sweat test and further supported by the demonstration of a heterozygous deletion of the F508 locus. Evidence for the diagnosis of type I diabetes mellitus was developed from the clinical presentation of diabetic ketoacidosis with hyperglycemia, ketonemia, and ketonuria. Immunologic evidence included the demonstration of anti-insulin antibodies. The demonstration of homozygous absence of aspartic acid at position 57 of the HLA DQ-beta chain placed this child at high risk of type I diabetes mellitus.
Conclusion:
The clinical presentation and the presence of immunologic and genetic markers characteristic of type I diabetes mellitus supports the concordance of cystic fibrosis and type I diabetes mellitus in this patient.