Question

The genetic evidence gathered on the heritablitiy and genes responsible for TD2 indicates that pancreatic cell physiology is critical to disease presentation. Explain the role the beta cells of the pancreas play in TD2 disease progression. Connect the dysfunction of one gene known to be connected to TD2 to this process.

Please read the case and answer all of the questions following it.
A patient presents with thirst and excess urination.
A 50-year-old Hispanic female presents to your clinic with complaints of excessive thirst, fluid intake, and urination. She denies any urinary tract infection symptoms. She reports no medical problems, but has not seen a doctor in many years. On examination she is an obese female, in no acute distress. Her physical exam is otherwise normal. The urinalysis revealed high concentration of glucose.

a. What is the most likely diagnosis TD1 or TD2? And why?
b. What test would you recommend to confirm the diagnosis?
c. How is her obesity connected to her disease?
d. Explain one medical complication she is at higher risk for due to her diabetes.
e. The woman described in this case history is both a mother of five and a grandmother.
i. Should she undergo genetic testing to determine whether she carries particular genetic markers for this disease? Why or why not?
ii. Should her children consider blood tests for disease? Why or why not?

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a. What is the most likely diagnosis TD1 or TD2? And why?
The most likely diagnose is T2D. The woman presents all the symptoms of diabetes as   polydipsia, polyphagia, urinary frequency and a high concentration of glucose in urine. (5) T2D is characterized by elevated blood glucose levels and usually elevated insulin levels. It is caused by insulin resistance and occurs in the adult age. T2D is more common than T1D. One of the main risk factors, obesity, is also presented in the patient.

b. What test would you recommend to confirm the diagnosis?
A simple blood tests can indicate the presence of high sugar levels in the blood. Also, a specialized blood test, glycated haemoglobin (HbA1c), can reveal the average blood sugar levels for the past 2 to 3 months, thus confirming the diagnose. An HbA1c level of 6.5% (48mmol/mol) or above indicates type 2 diabetes. (5) Insulinemia can reveal the normal or elevated insulin levels, differentiating from the T1D where levels of insulin are low....

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