Case Study: Pathophysiology
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.
For your initial post, please 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.
Role of Genetics in the Disease
According to (Miller, et al., 2020), cystic fibrosis is a genetic or inherited condition found in kids. This condition affects the way water and salt move in and out of cells. As a result, glands that produce sweat, mucus, saliva, tears, and digestive fluids get affected. Children are born with cystic fibrosis if they only inherit one cystic fibrosis gene from each parent. A parent may be a cystic fibrosis carrier, and so inherit the gene on their child. The moment parents bear a child with cystic fibrosis, they have a ¼ chance that each extra child will get born with cystic fibrosis (Lascano-Vaca, et al., 2020). This implies that there is a ¾ probability that additional children will not have the cystic fibrosis gene. However, these kids might be cystic fibrosis gene carriers.
Why the Patient is presenting with Described Symptoms
The 6-month patient is presenting with various symptoms: colic pain, crying after eating, inability to gain weight, chest congestion, and salty taste. The child presents with these symptoms because:
- Colic pain: The child’s digestive system is not developed fully, health bacteria imbalance in the digestive tract, thick faeces, thick liver secretion, and constipation(Gelfand, 2016).
- Crying after eating: Blockage of pancreatic duct which causes pain as a result of over-distention. When pancreatic duct is blocked, the digestive juice for digestion is not secreted.
- Inability to gain weight: Poor nutrients absorption in the gut, chronic illness that increases energy demand, chronic lung infection, and family history.
- Chest congestion: Family history; the patient’s 23-month old brother has had presented with chest congestion symptoms and been once hospitalized for pneumonia.
- Salty taste: Excessive sweat secretion.
Physiologic Response to Stimulus
As presented in this scenario, the evident physiologic response are thick liver secretion, telescoping of intestinal, thick faeces not clearing, and imbalance in the digestive tract. Also, the patient’s liver is becoming tampered and developing malfunction. The pancreas, an organ responsible for digestive juice secretion is also blocked by the thick secretion not clearing, and being blocked permanently (Lascano-Vaca, et al., 2020). The other physiological response is increased demand for energy due to the patient’s lung infection. The child responds to these by colic pain, salty taste, and inability to gain weight, chest congestion, and crying after eating because the food she eats is usually undigested. Also, I think inflammation causes damages to physiologic organs.