Diabetes mellitus

Onderzoek

Anamnese

Lichamelijk onderzoek: 

Laboratoriumonderzoek: nuchter glucose, HbA1c, kreatinine, TSH, eiwit urine, lipidenprofiel

NB:  HbA1c is gemiddelde waarde over 2-4 maanden (50% laatse maand, 25% 2e maand, 15% 3e maand, 10% 4e maand). Beïnvloed door o.a. verdunning (zwangerschap), hoge erytrocyten turnover (hemolyse, ferriprieve anemie met suppletie), nierinsufficiëntie, hemoglobinopathie, ras (snellere glycering bij negroide ras)

Criteria

Criteria voor diagnose diabetes mellitus

Criteria voor pre-diabetes / gestoorde glucosetolerantie

HbA1c

Classificatie

Grote groepen

Differentiatie bij diabetes de novo <40 jaar

Aanvullende diagnostiek

Prediabetes

Glucose 100-125 mg/dL = 5.6-6.9 mmol/LGlucose 110 mg/dL = 6.1 mmol/LHbA1c 5.7-6.4% = 39-46 mmol/LHbA1c 6.0% = 42 mmol/LBron

Diagnostisch algoritmes etiologie

ADA algoritme

  1. No single clinical feature confirms type 1 diabetes in isolation. The most discriminative feature is younger age at diagnosis (<35 years), with lower BMI (<25 kg/m2), unintentional weight loss, ketoacidosis, and glucose >20 mmol/L (>360 mg/dL) at presentation also being informative. Other features classically associated with type 1 diabetes, such as ketosis without acidosis, osmotic symptoms, family history, or a history of autoimmune diseases are weak discriminators. 
  2. GAD should be the primary antibody measured and, if negative, should be followed by islet tyrosine phosphatase 2 (IA2) and/or zinc transporter 8 (ZNT8) where these tests are available. In those diagnosed below the age of 35 years who have no clinical features of type 2 diabetes or monogenic diabetes, a negative result does not change the diagnosis of type 1 diabetes since 5–10% of people with type 1 diabetes do not have antibodies. 
  3. Monogenic diabetes is suggested by the presence of one or more of the following features: HbA1c <58 mmol/mol (7.5%) at diagnosis, one parent with diabetes, features of specific monogenic cause (e.g., renal cysts, partial lipodystrophy, maternally inherited deafness, severe insulin resistance in the absence of obesity), and monogenic diabetes prediction model
Bron: ADA guideline 2021

MODY

Andere kenmerken die kunnen wijzen op MODY:

Vormen van MODY

Model of a Pancreatic Beta Cell and the Proteins Implicated in Maturity-Onset Diabetes of the Young (MODY). Glucose is transported into the beta cell by a specific glucose-transporter protein (GLUT-2) on the cell surface. The MODY-associated glycolytic enzyme glucokinase (associated with MODY 2) catalyzes the transfer of phosphate from ATP to glucose to form glucose-6-phosphate. By means of this reaction, glucokinase functions as the glucose sensor of the beta cell. The generation of ATP by glycolysis and the Krebs cycle leads to inhibition and closure of the ATP-sensitive potassium channels (the target of sulfonylurea drugs), depolarization of the plasma membrane, opening of the voltage-dependent calcium channels, and influx of extracellular calcium and mobilization of calcium from intracellular stores, leading to the fusion of insulin-containing secretory granules with the plasma membrane and the release of insulin into the circulation. A mutation in one of the alleles of the gene encoding glucokinase leads to a reduction in beta-cell glucokinase activity, resulting in decreased glucose phosphorylation in the beta cell and glucose-stimulated insulin release at any blood glucose concentration. The MODY-associated transcription factors — hepatocyte nuclear factor (HNF) 4a (associated with MODY 1), HNF-1a (MODY 3), insulin promoter factor 1 (IPF-1 [MODY 4]), HNF-1b (MODY 5), and neurogenic differentiation factor 1 (NeuroD1), or beta-cell E-box transactivator 2 (BETA2 [MODY 6]) — function in the nucleus of the beta cell and regulate the transcription of the insulin gene (either directly, as in the case of HNF-1a, HNF-1b, IPF-1, and NeuroD1 or BETA2, or indirectly, through effects on the expression of other transcription factors, as in the case of HNF-4a); they also regulate the transcription of genes encoding enzymes involved in the transport and metabolism of glucose as well as other proteins required for normal beta-cell function.Bron

Hypoglycemie