Table 1.
Clinical Characteristics and Laboratory Findings of All Diabetic Family Members
| Case Identification (Relationship to II-2) | Age, y | Age at Diagnosis (y, Unless Otherwise Stated) | Symptoms at Diagnosis | Clinical Characteristics | Laboratory Findings | Genetic Testing | Diagnosis |
|---|---|---|---|---|---|---|---|
| II-2 | 31 | 30 | Asymptomatic- pregnant (7/40) | Slim (BMI: 24 kg/m2) Mild fasting hyperglycemia Insulin free after delivery, not on treatment currently Birth weight: 2.77 kg (42/40) |
HbA1c: 6.1% (43 mmol/mol) FCP: 0.79 nmol/L FBG: 118 mg/dL (110–125, 6.46), (6.6 mmol/L) (6.1–6.9, 0.36) Anti-GAD/ICA: negative |
c.617C>T;p.T206 m in GCK | GCK-MODY |
| I-2 (mother) | 57 | 33 | Osmotic symptoms Hyperglycemia (random BG of 414 mg/dL (23 mmol/L)) |
Slim On insulin soon after diagnosis, currently on basal bolus regimen (0.66 IU/kg · d) Previous episodes of DKA Autoimmune background (POEMS syndrome) CIDP, IHD, HTN |
HbA1c: 8.5% (69.4 mmol/mol) FCP <0.02 nmol/L Anti-GAD: positive |
No mutations in GCK | T1D |
| II-4 (sister) | 30 | 13 | Osmotic symptoms, weight loss, ketonuria | On insulin from diagnosis, currently on basal bolus regimen (1.08 IU/kg · d) Multiple episodes of DKA Diabetic nephropathy |
HbA1c: 9% (74.9 mmol/mol) FCP <0.02 nmol/L Anti-GAD/ICA: negative |
No mutations in GCK | T1D |
| II-6 (sister) | 25 | 20 | Asymptomatic-pregnant | Slim Mild fasting hyperglycemia, not on any medications currently Birth weight: 2.49 kg (40/40) |
c.617C>T;p.T206 m in GCK | GCK-MODY | |
| III-1 (daughter) | 6 | 3 | Enuresis, hyperglycemia, no ketonuria | Slim On basal bolus regimen currently (0.89 IU/kg · d) No DKA admissions Birth weight: 3.4 kg (39/40) |
Postprandial urinary C-peptide to creatinine ratio: 0.006 nmol/mmol Anti-GAD/ICA: positive |
Not tested | T1D |
| III-4 (niece) | 5 | 16 wk | Microsomic at birth, thrush, failure to thrive Ketoacidotic, HDU admission |
Slim On basal bolus regimen currently (0.88 IU/kg · d) DKA at diagnosis Birth weight: 2.1 kg (−4 SD of mean weight for age, 42/40) |
Negative for KCNJ11, ABCC8 and INS mutations p.([c.128C>G; R43P];[c.617C>T; T206M]) in GCK |
GCK-PNDM |
Abbreviations: BG, blood glucose; CIDP, chronic inflammatory polyneuropathy; FBG, fasting blood glucose; FCP, fasting C-peptide; HDU, high-dependency unit; HTN, hypertension; IHD, ischemic heart disease; POEMS, polyneuropathy, organomegaly, endocrinopathy, M protein, skin disease; x/40, week of gestation. FBG represents mean values (range, SD). All sequence information is based on Genbank reference sequence NM_000162.3.