Select a human hereditary disease or condition you would...

Question

Select a human hereditary disease or condition you would like to know more about. Using the OMIM website (http://www.ncbi.nlm.nih.gov/omim), search for the disease and prepare a short synopsis of your findings. Include the following information:

Any available information about the population(s) in which the disease is most common.

Accepted Answer

Hi, everyone. Welcome back. Let's look at our next question. It says in a clinical report, an individual is found to have an obese body habit, tous and manifestations of metabolic syndrome, which is characterized by diabetes, insulin resistance, hypertension and hyper triglyceride EMEA. What is the physician's diagnosis of the disease based on the symptoms? Let's look again at the symptoms here. Um, body habitats means body type physique. So an obese body habitats and manifestations of metabolic syndrome. So, so that's characterized by diabetes. Diabetes is when the body doesn't produce enough insulin. And so blood sugar remains high. Insulin resistance is sort of a lower level before actual diabetes when the body is producing insulin, but not responding as it should. So the body keeps going to turn out more and more insulin trying to get the body to get blood sugar out of the bloodstream. So again, also causes high levels of blood sugar, hypertension, high blood pressure and hyper triglyceride Neemia, high levels of triglycerides. So, based on these symptoms, what would be the physician's diagnosis? And we have four different types of diabetes mentioned here. Choice. A type one, diabetes, choice B, type two diabetes, choice C, renal cysts and diabetes syndrome and choice D diabetes and deafness, maternally inherited. So, in this case, these symptoms would lead to a diagnosis of type of choice B type two diabetes. Based on these symptoms. Let's look at our other answer choices to understand why they would not be correct. Choice. A type one diabetes is an autoimmune condition that sometimes although not always, um, appears in childhood, um, cause when the body's immune system attacks its own pancreas and therefore eventually the pancreas to be to the point where it can't produce insulin. Um, symptoms of type one diabetes include susceptibility to ketoacidosis due to the complete loss of insulin production, excessive thirst or hunger, excessive urine production. Um Those things are due to um diuretic, excuse me, hypoglycemic diaries is so the loss of fluids due to high blood sugar as a result of diabetes, which leads to the excessive thirst leads to excessive water consumption causing all these other things. But those aren't symptoms that were mentioned here. So we're going to eliminate choice. A then Choi C says renal cysts and diabetes syndrome but were not mentioned. Uh There's no renal symptoms mentioned here. So that's why that wouldn't be our answer choice. Let's move on to choice. D diabetes and deafness, maternally inherited. But again, we don't see any symptoms based those symptoms relating to the ear, the eardrum or deafness, which would be characteristic of this. So choice D is not our answer again since our question says, what's the diagnosis based on symptoms? That's why we have eliminated choice A C and D, none of which have symptoms that were mentioned in this question. So our answer here is Choice B type two diabetes. See you in the next question.

Key Concepts

Hereditary Diseases

OMIM Database

Population Genetics

Watch next