Our customer support team is here to answer your questions. Ask us anything!
👋 WhatsApp Us Now
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.
Cystic fibrosis is an inherited disorder that affects the cells responsible for producing mucus, sweat and digestive fluids. It is caused by a genetic mutation in a gene known as the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene which prevents the body from properly regulating sodium, chloride and water balance across cell membranes. This results in thickened secretions such as mucus or sweat leading to serious problems with infection, digestion and fertility.
The patient in this scenario is presenting with symptoms of cystic fibrosis because her baby has multiple episodes of crying after eating, despite having a good appetite, not gaining weight and a swollen belly. This indicates that the baby has difficulty digesting food due to thickened secretions blocking nutrients from being absorbed into the bloodstream leading to poor weight gain. Additionally, these thickened secretions also lead to salty skin as increased salt concentrations are present on top of her skin due to sodium imbalances through disrupted cell membranes unable to regulate them appropriately.
The physiologic response exhibited here occurs when there are disruptions in cellular regulation resulting from mutations in CFTR genes impairing regulatory functions of cells responsible for mucus production like epithelial cells found throughout respiratory systems and glands secreting digestive enzymes like pancreas acinar cells found in gastrointestinal tracts among other organs. As a result oxygen levels decrease leading to hypoxia-induced swelling seen in this case presented with increased size of belly due decreased delivery of oxygenated blood supply required for normal metabolism activities like absorption of food molecules into bloodstreams causing malnutrition metabolic insult experienced by this infant ultimately resulting in poor growth perpetuating long term health issues associated with cystic fibrosis if left untreated or unrecognized at early stages developmentally speaking.
Gender plays an important role particularly when considering genetic components linked to cystic fibrosis since it’s more commonly observed within certain sex populations though exact mechanism still remains unknown but thought possibly related paternal inheritance specific X-linked recessive trait making male gender more prone developing disorders while female carriers remain typically unaffected under normal circumstances barring presence any environmental factors directly contributing exacerbation symptomology involved conditions making relevant caretaker considerations population targeted treatments aimed minimizing effects condition over course lifetime affected individual(s).