Diabetes mellitus type 1

It is characterized by poor insulin production due to the autoimmune destruction of pancreatic cells in 90% of cases. Sustained hyperglycemia over time leads to complications that limit quality of life. The prevalence is estimated to be around 10%, occurring preferably at an early age, 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 immune system's destruction of insulin-producing pancreatic beta cells. The exact cause of this autoimmune destruction is unknown, but 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 cases, no autoantibodies against these cells have been detected.

Pancreatic injuries such as infections, tumors, surgeries, traumas, or accidents that also trigger physical stress can also contribute to the development of this endocrine condition.

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

Symptoms

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

  • Increased thirst and extreme hunger.
  • Frequent urination or incontinence at an early age.
  • Unexplained weight loss.
  • Discomfort and vomiting.
  • Irritability and other mood changes.
  • Fatigue and weakness.
  • Blurred vision.
  • Recurrent skin and urinary tract infections.

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

Prevention

There is no known way to prevent type 1 diabetes, although education about diabetes is a very important part of its management, especially considering the development of complications in many organs due to long-term hyperglycemia. Such is the case with retinopathy affecting the ocular retina, nephropathy due to kidney damage, neuropathy affecting the central nervous system, or vasculopathies leading to an increased risk of cardiovascular accidents, arteriosclerosis, or early heart disease.

Proper management at the onset requires educational planning, continuous support, and motivation. Available evidence shows a beneficial effect of educating both the child or adolescent, as well as their families, about blood glucose control not only in relation to insulin administration-based treatment, but also in the context of diet, physical exercise, and maintaining a healthy lifestyle (avoiding alcohol, tobacco, and other substances of abuse). Good metabolic control is crucial to preventing complications both in the short and long term.

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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