Diabetes mellitus type 1

It is characterized by deficient insulin production due in 90% of cases to autoimmune destruction of pancreatic insulin-producing cells. Hyperglycemia triggered and maintained over time leads to complications limiting the quality of life. Prevalence is estimated to be close to 10%, occurring preferably at early ages, although it can occur at any age.

Type 1 diabetes is triggered with equal incidence in both men and women, preferably in children or young adults under 20 years of age, as a consequence of the destruction by the immune system itself of the insulin-producing beta-pancreatic cells. The exact triggering cause of this autoimmune destruction is unknown, however, it has been suggested that in addition to genetic contribution, environmental factors such as viruses or certain climates could trigger the disease. However, in 10% of the cases, autoantibodies against these cells of the organism have not been detected.

Injuries to the pancreas such as infections, tumors, operations, trauma or accidents that also trigger physical stress can also add to the development of this endocrinological condition.

Additionally, a higher risk for developing this condition has been identified in individuals of Caucasian ethnicity.

Symptoms

Signs and symptoms of type 1 diabetes can be subtle and appear relatively suddenly:

  • Increased extreme thirst and hunger.
  • Urinary urgency or incontinence at early ages.
  • Unexplained weight loss.
  • Malaise and vomiting.
  • Irritability and other mood swings.
  • Fatigue and weakness.
  • Blurred vision.
  • Recurrent infections of the skin, urinary tract.

However, they can become severe including signs identifying an emergency that may require medical intervention as early as possible, such as tremors and confusion, rapid breathing, fruity breath odor (ketoacidosis) or loss of consciousness.

Prevention

There is no known way to prevent type 1 diabetes, although it is true that education about diabetes is a very important part of its control, especially if we consider the development of complications in a multitude of organs due to long-term hyperglycemia. Such is the case of retinopathy on the ocular retina, nephropathy due to renal damage, neuropathy due to central nervous system involvement, or vasculopathies that lead to an increased risk of cardiovascular accidents, arteriosclerosis, or early heart disease.

For proper management at the age of debut, educational planning, continuous support and motivation are necessary. The available evidence shows a beneficial effect of educating both the child or adolescent, as well as family members, about glycemic control not only in relation to insulin-based treatment, but also in the context of diet, physical exercise and maintenance of a healthy lifestyle (avoiding alcohol, tobacco and other substances of abuse). Good metabolic control is crucial to prevent both short and long term complications.

Number of observed variants

13.5 million variants

Number of risk loci

110 loci

Genes analyzed

ACAP1 ADAD1 ADCY3 AFF3 AGO2 AKAP11 AMZ2 ASZ1 ATXN2 BACH2 BAK1 BATF3 BCL11A C1QTNF6 CAMK4 CAPSL CCDC88B CD226 CD69 CENPW COLEC10 CTLA4 CTRB2 CTSH DYNLRB2 FAP FARP2 FLI1 FUT2 GATA3 GLIS3 GP2 GPR25 GPX5 GRB10 H1-1 HORMAD2 ICAM3 IFIH1 IKZF1 IKZF4 IL19 IL2RA IL2RB INS INS-IGF2 IRF2 IRF4 ITGB1 ITGB8 ITPR3 KLRG1 L2G LRRC32 MLN MTF1 NOTCH2 NPIPB6 NUPR1 PFKL PGM1 PLEKHM1 PRF1 PRKCQ PRKD2 PRM1 PRR15L PRSS16 PSMB2 PTPN2 PTPN22 PTPRC RAD51B RBPJ RGS1 RMI2 RNLS RTL1 RUNX3 SH2B3 SIRPG SKAP2 SLC17A1 SLC22A5 STAT4 TH TLL1 TM9SF2 TNFAIP3 TOX TRIB2 TYK2 UBASH3A UBE2G1 VRK1 ZBTB9 ZFP36L1 ZKSCAN8P1 ZNF165 ZNF322 ZSCAN16

Bibliography

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