Table 1. Clinical characteristics and laboratory findings of all diabetic family members.
CIDP: chronic inflammatory polyneuropathy, DKA: diabetic ketoacidosis, FCP: fasting C-peptide, GCK: glucokinase, GAD: glutamic acid decarboxylase, HDU: High Dependency Unit, HTN: Hypertension, ICA: Islet cell antibodies, IHD: Ischemic Heart Disease, POEMS: Polyneuropathy, organomegaly, endocrinopathy, M protein, skin disease. FBG represent mean values (range, Standard Deviation). ×/40 indicates week of gestation. All sequence information is based on Genbank reference sequence NM 000162.3
| Case ID (relationship to II-2) | Age | Age at diagnosis (years 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, improved post-delivery Insulin-free post-delivery- not on treatment currently Birth weight: 2.77 kg (42/40) |
HbA1c: 6.1% (43 mmol/mol) FCP: 0.79 nmol/liter FBG: 118 mg/dl (110-125, 6.46), (6.6 mmol/liter (6.1-6.9, 0.36) Anti-GAD/ICA: Negative |
c.617C>T;p.T 206 m in GCK | GCK-MODY |
| I-2 (mother) | 57 | 33 | Osmotic symptoms Hyperglycemia (random BG of 414 mg/dl (23 mmol/liter)) |
Slim On insulin soon after diagnosis- currently on basal bolus regimen (0.66 IU/kg/day) Previous episodes of DKA Autoimmune background (POEMS syndrome) CIDP, IHD, HTN |
HbA1c: 8.5% (69.4 mmol/mol) FCP< 0.02 nmol/liter Anti-GAD: positive |
No mutations in GCK | Type 1 Diabetes |
| II-4 (sister) | 30 | 13 | Osmotic symptoms, weight loss, ketonuria | On insulin from diagnosis- currently on basal bolus regimen (1.08 IU/kg/day) Multiple episodes of DKA Diabetic nephropathy |
HbA1c: 9% (74.9 mmol/mol) FCP<0.02 nmol/liter Anti-GAD/ICA: negative |
No mutations in GCK | Type 1 Diabetes |
| 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.T 206 m in GCK | GCK-MODY | |
| III-1 (daughter) | 6 | 3 | Enuresis, hyperglycemia, no ketonuria | Slim On basal bolus regime currently (0.89 IU/kg/day) No DKA admissions Birth weight: 3.4 kg (39/40) |
Post-prandial urinary C peptide-creatinine ratio: 0.006 nmol/mmol Anti-GAD/ICA: positive |
Not tested | Type 1 Diabetes |
| III-4 (niece) | 5 | 16 weeks | Microsomic at birth, thrush, failure to thrive Ketoacidotic - HDU admission |
Slim On basal bolus regimen currently (0.88 IU/kg/day) DKA at diagnosis |
Negative for KCNJ11, ABCC8 and INS mutations p.([c.128C[ mt]G; R43P];[ c.617C>T; T206 m]) in GCK | GCK-PNDM |