Case Report
Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation
Table 1
Characteristics of the family.
| | Subject | Patient | Father | Sister |
| | Current age (year) | 5 y | 40 y | 3.5 y | | Onset of diabetes | | | | | (i) Age at presentation (week) | 28 | 12 | 10 | | (ii) Clinical presentation | Polydipsia/polyuria | Severe DKA*+ comatose | Polydipsia/polyuria | | (iii) HbA1c (%) | 13.5 | N.a. |
**5.4 | | (iv) DKA at presentation | None | Yes | None | | (v) Std. HCO3−1 (mmol/L) | 22 | N.a. | 24 | (vi) Stimulated C-peptide(nmol/l)
(reference range 0.40–1.70 nmol/L) | 0.82/0.21*** | <0.17§ | 0.32 | | (vii) 1GAD, ICA, IA-2, IAA | Negative | Negative§ | Negative | | (viii )Birth weight (gram) | 2970 | 3492 | 3136 | | Followup | | | | Age (years ): HbA1c (%)/insulin dose
(U kg−1 day−1) | 1 y: 6.9/0.84
2 y: 8.1/0.61
3 y: 9.5/0.88
4 y: 7.9/0.53
5 y: 7.9/0.52 | 34 y: 9.5/0.75
35 y: 7.7/N.a.
38 y: 8.0/0.59 | 1 y: 7.8/0.59
2 y: 7.2/0.69
3 y: 8.6/0.87
3.5 y: 7.7/0.48 |
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1Autoantibodies: GAD65 (glutamic acid decarboxylase 65 antibodies), ICA (Islet cell autoantibodies), IA-2A (insulinoma antigen-2). and IAA (insulin autoantibodies). N.a = not available.
*DKA: diabetic ketoacidosis.
**Inaccurate test due to foetal haemoglobin.
***1/13 months after diabetes onset.
§measured 35 years after diabetes onset.
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