Cystic Fibrosis

Answer

• Cystic fibrosis

  Introduction

  Cystic fibrosis is a common autosomal recessive genetic disease that affects a significant percentage of the Caucasian population. This disease usually affects multiple organ systems but the most commonly affected system is the respiratory system. Affected children usually present with respiratory complications as well as gastrointestinal complaints. The common presentation is about 6 to 8 months through the clinical presentation, and manifestation varies from one child to another. The common cause of death is usually end-stage lung disease (Farrell et al., 2017).

  Why the Patient Presented the Symptoms Described

  It is important to note that cystic fibrosis is a multi-systemic disorder that affects various systems in the body. This, by extension, means that the clinical presentation is not the same across the affected patients. As previously mentioned, the commonly affected system is the respiratory system that is characterized by slow, persistent respiratory distress with eventual end-stage lung disease and death. This particular child presented with the following
  complaints:

  • Salty taste: Cystic fibrosis is characterized by severe impairment of chloride exchange across various channels from the skin to the gastrointestinal tract. The genetic defect in the protein transmembrane conductance regulator (CFTR) leads to decreased chloride secretion and increased reabsorption of sodium (Bergeron & Cantin, 2019). The effect on the mucosal surface increased the concentration of the sweat hence the salty taste when kissed by the mother.
  • Distended abdomen: The distended abdomen is due to ileus that results due to impaired chloride secretion by the gastrointestinal cells. This leads to stasis of food and increased production of gas that distends the abdomen. In addition to this, there is decreased absorption of intestinal content given the impaired synthetic function of the liver and pancreas as well as the impaired osmotic potential of the gastric lumen.
  • Failure to gain weight: Cystic fibrosis is associated with a gastrointestinal complication, including impairment of pancreatic function and secretion of digestive enzymes by extension. This means that despite a normal appetite and diet, affected children will fail to gain weight or thrive as expected given the nutritional deficiency that sets in.

  Identify the Genes that May be Associated with the Development of the Disease

  Cystic fibrosis is a genetic disease state that is inherited as an autosomal recessive disease. The associated gene mutation is the cystic fibrosis gene that codes for protein transmembrane conductance regulator. The main function of this regulator is to function as a chloride channel, which is in turn regulated by the cyclic adenosine monophosphate. The associated gene mutation affects chloride transport across the chloride channels in various epithelial surfaces across the body (Roesch, Nichols & Chmiel, 2018).

  Explain the Process of Immunosuppression and the Effect it Has on Body Systems

  Immunosuppression is a common concept applied in the management of various disease states in the body. In particular, an autoimmune disease that is characterized by the destruction of the body tissues by the immune cells is managed via immunosuppression to minimizes the damages. It is, however, important to appreciate that immunosuppression has various detrimental effects on body systems.

  Immunosuppression predisposes an individual to various infections that can lead to pneumonia or cancers. A normal immune system is often able to keep infections at bay, thus keep an individual healthy. Immunosuppression achieved through the administration of drugs such as prednisolone is often associated with hyperglycemia, and this can lead to new-onset diabetes, just to name a few (Giles et al., 2018).