Research Article
A Missense Mutation in IRS1 is Associated with the Development of Early-Onset Type 2 Diabetes
Table 1
Physical and laboratory examination.
| | II-1 | II-2 | III-1 | III-2 | III-3 | III-4 | III-5 | III-6 | IV-1 | IV-2 |
| | Gender | F | M | F | M | F | M | M | F | M | M | | Age, y | 77 | 71 | 38 | 36 | 58 | 60 | 57 | 54 | 30 | 28 | | Age of onset, y | 64 | 48 | — | — | — | 45 | 32 | — | — | — | | BMI (kg/m2) | 23.3 | 20.8 | 18.8 | 16.4 | 29.0 | 26.7 | 25.6 | 23.5 | 21.2 | 22.1 | | Urine sugar (neg) | Neg | Neg | Neg | Neg | Neg | 4+ | Neg | Neg | Neg | Neg | | FPG (3.9∼6.1, mmol/L) | 4.70 | 8.38 | 4.70 | 4.57 | 4.45 | 11.96 | 11.20 | 5.16 | 4.43 | 5.48 | | FCP (1.1∼3.3, ng/ml) | 1.02 | 1.08 | 1.12 | 3.36 | 1.28 | 1.30 | 1.14 | 1.39 | 1.21 | 1.18 | | HbA1c (4∼6%) | 5.3 | 8.6 | 5.3 | 5.4 | 5.3 | 10.2 | 9.0 | 5.6 | 5.3 | 5.3 | | Ketonuria (neg) | Neg | Neg | Neg | Neg | Neg | Neg | Neg | Neg | Neg | Neg | | ALT (9∼50, U/L) | 7.4 | 22.0 | 7.4 | 142.1 | 28.1 | 11.0 | 14.1 | 15.4 | 22.0 | 13.0 | | AST (15∼40, U/L) | 12.5 | 18.6 | 12.5 | 41.7 | 24.8 | 13.0 | 17.1 | 21.2 | 25.3 | 13.5 | | Cr (57∼111, μmol/L) | 57.1 | 65.1 | 57.1 | 56.9 | 58.0 | 66.0 | 75.0 | 64.9 | 68.5 | 92.0 | | UA (208∼428, μmol/L) | 207.5 | 280.2 | 207.5 | 368.1 | 474.7 | 273.0 | 270.1 | 255.3 | 346.4 | 335.1 | | TG (<1.7, mmol/L) | 0.41 | 0.87 | 0.41 | 1.34 | 1.34 | 1.22 | 1.16 | 1.53 | 1.78 | 0.61 | | TC (<5.18, mmol/L) | 4.72 | 3.71 | 4.72 | 5.19 | 5.36 | 6.49 | 5.31 | 5.78 | 5.39 | 5.03 | | HDL-C (>1.04, mmol/L) | 1.91 | 1.43 | 1.91 | 1.12 | 1.22 | 1.02 | 1.15 | 1.28 | 1.27 | 1.41 | | LDL-C (<3.37, mmol/L) | 2.17 | 1.49 | 2.17 | 3.52 | 3.64 | 5.12 | 3.44 | 3.66 | 3.54 | 3.18 | | GAD (neg) | Neg | Neg | Neg | Neg | Neg | Neg | Neg | Neg | Neg | Neg | | ICA (neg) | Neg | Neg | Neg | Neg | Neg | Neg | Neg | Neg | Neg | Neg | | IAA (neg) | Neg | Neg | Neg | Neg | Neg | Neg | Neg | Neg | Neg | Neg |
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F: female; M: male; BMI: body mass index; FPG: fasting plasma glucose; FCP: fasting C-peptide; HbA1c: glycosylated hemoglobin; ALT: alanine aminotransferase; AST: aspartate aminotransferase. Cr: serum creatinine; UA: uric acid; TG: triglyceride; TC: total cholesterol; HDL-C: high-density lipoprotein cholesterol; LDL-C: low-density lipoprotein cholesterol; hsCRP: hypersensitive C reactive protein; GAD: glutamic acid decarboxylase antibodies; ICA: islet cell antibodies; IAA: insulin autoantibodies; Neg: negative.
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