Scenario 2: Type 1 Diabetes A 14-year-old girl is brought to the pediatrician’s office by his parents who are concerned about their daughter’s weight loss despite eating more, frequent urination, unquenchable thirst, and fatigue that is interfering with her school activities. She had been seemingly healthy until about 4 months ago when her parents started noticing these symptoms. She admits to sleeping more and gets tired very easily. PMH: noncontributory.

 Type 1 diabetes can occur due to genetics, environmental, and or lifestyle influences. Type 1 diabetes (T1D) is a chronic autoimmune disorder that leads to progressive pancreatic ß-cell destruction and culminates in absolute insulin deficiency and stable hyperglycemia. Environmental factors likely play a role in triggering islet autoimmunity. Factors such as gluten, breastfeeding and cow’s milk, vitamin D intake, the composition of your gut microbiota, infections acquired, antibiotics, and other medications taken may all play a role and affect the patient, leading to type 1 diabetes.

Genetic factors include: Islet autoantibodies found in serum – Interferon (IFN)-stimulated genes – Excess IFIH1 (MDA5) levels may contribute to inflammation and autoimmunity. – PTPN22 contains risk polymorphisms that almost double the risk for T1D – High expression of CTLA-4 leads to inhibition of T cell activation – IL10 has an anti-inflammatory effect and has been identified as a risk factor for T1D – TNFAIP3 exerts anti-inflammatory function by inhibiting NF-κB activation and is associated with T1D. – Interleukin-21 and IL-2.

Islet cell autoantibodies (ICAs) were detected in serum from patients with autoimmune polyendocrine deficiency. They have subsequently been identified in 85 percent of patients with newly diagnosed type 1 diabetes and in prediabetic people. Autoantigens form on insulin producing beta cells and circulate in the blood and lymphatics. This leads to processing and presentation of autoantigen by antigen presenting cells