Answer discussion 1 patho

Respond: your colleagues, respectfully agree or disagree with your colleague’s assessment and explain your reasoning. In your explanation, include why their explanations make physiological sense or why they do not

Respond in 2 paragraphs with 4 to 6 sentences. References minimum 3, and not more than 5 years ago.

Cystic fibrosis is a genetic condition that affects the breathing and digestion in infants. This condition is caused by a thick mucus that builds up in the body. It is passed on from parent to child through its genes. A gene is a unit of heredity which is transferred from the parent to the offspring, it determines some of the characteristics of the offspring. You receive each gene by each parent. When the genes change it is called mutation in this process it causes the gene not two work the way it’s supposed to do. Causing a birth defect in the baby’s health condition and its present in the baby at birth. The older the baby with CF grows, the worst the condition gets, causing lung damage and up to death in the baby. 

Why the patient is presenting with the specific symptoms described:

When the mucus becomes thick and stick this causes the ducts in the pancreas to get blocked and this prevents the enzymes from reaching the small intestine to digest food, causing pain, cramping, gas, and loose stools, even constipation and blockages. Undigested foods in the intestines can cause pain, cramping, gas a possibly loose, greasy, floating stools, constipation, and blockages (Cystic Fibrosis Foundation, n.d.) Therefore, the baby belly gets swollen sometimes, baby cry’s after eating and does not gain weight. The 23-month-old son also has episodes of chest congestion, which also reveals that the son has cystic fibrosis also. 

There is a highly effective cystic fibrosis transmembrane regulator protein (CFTR) modulator therapies that treat the underlying defect in people with cystic fibrosis. The benefits depend on to a range of factors that would include CF disease stage and complications, how they accept the treatment regimen, and tolerate the drug (Thursfield, R. M. et al. 2021) 

The physiologic response to the stimulus presented in the scenario and why you think this response occurred:

In this case the baby is presenting these symptoms because the baby has inherited the condition from the parents. The baby presents symptoms that a baby with CF has, such as salty skin, slow growth even with a good appetite. 

Cystic Fibrosis is a genetic disorder that affects the lungs, pancreas, and intestines. The child can present malnutrition, poor growth, respiratory infections, and chronic lung disease. It can damage the lung tissue that it will no longer work. It worsens gradually until it becomes life-threatening. 

The kidneys are another organ that is affected. It can cause chronic kidney disease linked to higher levels of uric acid and fats in the blood. Undigested foods in the intestines can cause pain, cramping, gas a possibly loose, greasy, floating stools, constipation, and blockages (Cystic Fibrosis Foundation, n.d.) Therefore, the baby belly gets swollen sometimes, baby cry’s after eating and does not gain weight. The 23-month-old son also has episodes of chest congestion, which also reveals that the son has cystic fibrosis also. 

The cells that are involved in this process:

Cystic fibrosis affects the cystic fibrosis transmembrane regulator, which controls the flow of water and some salts that enter in and out of the body’s cells. As the movement of salt and water that goes in and out of the body’s cell change, the mucous gets thicker (Cutting, G.r., 2015) 

How other characteristics would change your response?

The baby can be a CF carrier which means she does not have the disease but carries the gene.   then there is the condition of CF which babies have a thick and sticky mucous that builds up in the body, mainly building up on the lungs causing difficulty breathing and infections. If the mother and the father are both have normal genes and are not carriers of CF, then they cannot pass on CF gene to the baby. More information and further testing must be done to determine the causes of the baby’s symptoms, which could be from other genetical causes or environmental factor. 

A parent can be a carrier and pass the gene of CF to the offspring. There is a 1 in 4 chance that each additional child can have Cystic Fibrosis. It also means that 3 out 4 chances the additional child won’t have Cystic Fibrosis. But the child can carry the CF gene. 

The goal is to improve physical health. Improve lung function and clinical stability. Slowing lung function loss, reducing the need for lung transplants, reduce treatment burden and improve quality of life. 

 

Reference:

Cutting, G. R. (2015). Cystic Fibrosis Genetics: from molecular understanding to clinical 

            Application.  https://doi:10.1038/nrg3849

Thursfield, R. M., Shafi, N., & Davis, J.C. (2022). Counterpoint: In the Era of Cystic Fibrosis 

            Transmembrane Regulator Protein Modulator Therapy, Are the Treatment Goals for

            Adults now different from those for Children with Cystic Fibrosis. No. 

             https://doi.org/10/1016/j.chest.2021.06.018

Cystic Fibrosis Foundation. (n.d.) The Digestive Tract. 

https://www.cff.org/managing-cf/digestive-tract