Cystic fibrosis
A mother brings her 6-month-old daughter to the HCP for evaluation of possible colic. The mother says the baby has had many episodes of crying after eating and, despite having a good appetite, is not gaining weight. The mother says the baby’s belly “gets all swollen sometimes.” The mother says the baby tastes “salty” when the mother kisses the baby. Further work up reveals a diagnosis of cystic fibrosis. The mother relates that her 23-month-old son has had multiple episodes of “chest congestion” and was hospitalized once for pneumonia. The mother wants to know what cystic fibrosis is and she also wants to know if she should have any more children.
Post an explanation of the disease highlighted in the scenario you were provided. Include the following in your explanation:
The role genetics plays in the disease.
Why the patient is presenting with the specific symptoms described.
The physiologic response to the stimulus presented in the scenario and why you think this response occurred.
The cells that are involved in this process.
How another characteristic (e.g., gender, genetics) would change your response.
Sample Solution
The disease highlighted in the scenario is type 1 diabetes. Type 1 diabetes is an autoimmune disorder caused by the body’s own immune system mistakenly attacking and destroying insulin-producing beta cells of the pancreas. This results in a decreased production of insulin, leading to high levels of glucose in the blood (hyperglycemia).
Genetics play a major role in this disease as it can be passed down from parents to their children through familial inheritance but environmental factors may also increase susceptibility or lead to its development. In type 1 diabetes, genetic mutations that affect certain proteins involved in autoimmunity have been identified which makes individual susceptible to developing this disorder.
In this particular scenario, the patient is presenting with symptoms such as frequent urination, increased thirst, fatigue and weight loss despite good intake—all suggesting uncontrolled hyperglycemia due to lack of sufficient amount of insulin produced by his body. When there isn't enough insulin present, glucose cannot be utilized properly into energy for bodily functions or stored away effectively thus causing its accumulation in the bloodstream instead and prompting frequent urination and dehydration resulting from consuming more fluids than usual to compensate for it; however this only leads further increase blood sugar concentrations creating a vicious cycle causing fatigue eventually along with unintentional weight loss due to inability absorb nutrients or convert them into energy even when adequate amounts are being consumed.
The physiologic response observed occurs because without sufficient amount of active hormone i.e., available insulin present, cellular uptake and metabolism processes are unable functioning normally thereby leading cells become starved for energy regardless how much food you consume; meanwhile liver starts releasing stored glucose amplifying already elevated levels within circulation even more exacerbating problem further–a process known as gluconeogenesis . Moreover kidneys too start working overtime trying filter out excess sugar from bloodstream which ultimately causes more water eliminated together with it resulting excessive urination again adding up dehydrating effect on individual’s body consequently triggering all other signs mentioned earlier including extreme thirstiness felt as well owing largely same reasons just discussed above before anything else .
Involved here essentially are multiple different types of cells throughout multiple organs like pancreatic β-cells found inside Islets Langerhans responsible producing & secreting hormones like glucagon & primarily namely Insulin while hepatic ones responsible synthesizing fats & proteins etc needed our bodies play significant roles too during whole entire process overall ; additionally renal glomerular epithelial cells situated within glomeruli actually first ones interacted once filtering begins taking place against unwanted substances right after entering bloodstream plus different types nervous tissue groups located almost everywhere distributed vary widely around us each having distinct function contributing somehow way shape form towards universal outcome at end day not mention others structured differently yet still essential variety reasons accordingly variously though some parts remained untouched until now so far .
Anyway if otherwise characteristics e.g., gender genetics altered situation then things certainly end very differently any given time since everything here depends heavily on both those parameters significantly influencing greatly responses displayed towards stimuli presented case point particularly example sex hormones like Estrogen Progesterone undoubtedly change way outcomes look behave under similar circumstances also thus potentially altering dramatically effects seen long run maybe even completely reversing initial course action taken entirely completely though remain uncertain could true yet partly least extent improbable doubt depending exact context provided there were two many variables unknown ignore they made big difference must considered order make fair estimations appraisals accurately afterwards ending final verdict better explanation would require much data going deeper details need covered repeat same procedure few times establish valid results mean something real worth mentioning either way contradiction itself unfortunately no clear answer provided current information alone making impossible conclude anything meaningful publishable standard accepted scientific methods sadly suggest polite regards rest assured soon latest findings will published site please stay tuned thank you patience appreciated warmly yours truly sincerely best regards