Edema wk. 1 Discussion Paper

Edema describes a condition of accumulated fluid in the abdominal cavity and the legs. Hereditary edema type III is caused by mutations in the F12 gene while type I and type II angioedema results from the SERPING1 gene mutations (Satomura, Fujita & Nakayama, 2018). This gene gives instructions for synthesis of C1 inhibitor protein located on the eleventh chromosome (11q11-q13.1) (Zeerleder & Levi, 2016). Mutations of this gene cause improper or low-level functioning of the C1 inhibitor which results in generation of bradykinin, a peptide that increases fluid leakage through the blood vessels walls into the body tissues causing inflammation.Edema wk. 1 Discussion Paper

ORDER A PLAGIARISM -FREE PAPER NOW

The patient is presenting with generalized edema of extremities and abdomen because of the swelling caused by the leakage and accumulation of fluids into the body tissues in those areas. Protein malnutrition is characterized by low levels of protein in the blood. This condition can cause edema since the available proteins are insufficient to hold water and salt inside the blood vessels to prevent leakage of fluid into the tissues (Kakroo, Vaitkevicius & Baliga, 2020). Moreover, malabsorption syndrome prevents adequate absorption of such proteins and other nutrients and fluids in the small intestine. Thus, the physiologic response is increased capillary hydrostatic pressure caused by accumulation of excess interstitial fluid.

Cells involved in the pathological process include the white blood cells which together with proteins accumulate in the interstitial as the lymphatic system fails to remove them. Immune responses are triggered by antigen-presenting dendritic cells (APCs) and leukocytes (Ratchford & Evans, 2017). Other than genetics, generalized edema is influenced by age. This is because of the increased risk of chronic venous insufficiency and other illnesses associated with old age (Popper, 2017). The patient is 83 years old and has had malabsorption syndrome due to lack of dentures. Lack of teeth is a common feature among the aged population.

References

Kakroo, M. A., Vaitkevicius, P. V., & Baliga, R. R. (2020). Edema. In Practical Cardiology (pp. 39-46). Springer, Cham.

Popper, H. (2017). Edema. In Pathology of Lung Disease (pp. 59-62). Springer, Berlin, Heidelberg.

Ratchford, E. V., & Evans, N. S. (2017). Approach to lower extremity edema. Current treatment options in cardiovascular medicine, 19(3), 16.

Satomura, A., Fujita, T., & Nakayama, T. (2018). Comparison of the Frequency of Angioedema Attack, before and during Pregnancy, in a Patient with Type I Hereditary Angioedema. Internal Medicine, 57(5), 751-755.

Zeerleder, S., & Levi, M. (2016). Hereditary and acquired C1-inhibitor-dependent angioedema: from pathophysiology to treatment. Annals of medicine, 48(4), 256-267.Edema wk. 1 Discussion Paper

Patient scenario

Mrs. Irving is a Caucasian female who presents her three months old in the emergency room. She complains that the baby is short of breath, unable to gain weight, and has a non-productive cough. The baby’s objective assessment reveals low oxygen saturation, fever, pulmonary congestion, respiratory wheezes, and unable to thrive. An elevation of the sweat chloride test confirms cystic fibrosis (CF) (Schmidt & Sharma, 2019).

Pathophysiology

Cystic Fibrosis is an autosomal recessive disorder from a muted gene within the long arm of a chromosome 7 that encodes to an epithelial ion channel referred to as cystic fibrosis transmembrane regulator (CFTR) (Maule, Arosio, & Cereseto, 2020). Patients inherit different forms of a homologous allele on (CFTR) gene, thus regulating water and chloride ion movements in and out of the membrane. CTFR is responsible for sodium, chloride, water, and reabsorption through the membrane (Hanukoglu, et al., 2017). However, the defective gene may lead to dehydration on airway surface liquid, leading to mucociliary clearance. A person with this disorder retains secretions resulting in inflammation, bilateral adherence, tissue destruction, and infection.

In the case of an abnormal CFTR gene mediation, the bicarbonate develops an unfavorable acidic surface in the lungs that impair antimicrobial activities and alternation of mucus clearance properties. Airway surface liquid (ASL) layer is a homeostatic mechanism that primarily maintains the airway’s ciliary functions, antimicrobial properties, and supports the ciliary function (Webster & Tarran, 2018). CF affects various systems, such as gastrointestinal, respiratory, sweat gland, and reproductive. This disease affects the respiratory system causing respiratory failure and bronchiectasis. The main signs include poor weight and growth, salty-tasting skin, chest infection, and shortness of breath. This condition is life-threatening that may cause early death. The ASL dehydration and mucus cause an influx of neutrophils leading to the inflammatory process in the absence of pathogenic infections (Khan, et al., 2019).Edema wk. 1 Discussion Paper

References

Schmidt, H., & Sharma, G. (2019). Sweat Testing. In StatPearls [Internet]. StatPearls Publishing.

Maule, G., Arosio, D., & Cereseto, A. (2020). Gene Therapy for Cystic Fibrosis: Progress and Challenges of Genome Editing. International Journal of Molecular Sciences, 21(11), 3903.

Hanukoglu, I., Boggula, V. R., Vaknine, H., Sharma, S., Kleyman, T., & Hanukoglu, A. (2017). Expression of epithelial sodium channel (ENaC) and CFTR in the human epidermis and epidermal appendages. Histochemistry and cell biology, 147(6), 733-748.

Webster, M. J., & Tarran, R. (2018). Slippery when wet: airway surface liquid homeostasis and mucus hydration. In Current topics in membranes (Vol. 81, pp. 293-335). Academic Press.

Khan, M. A., Ali, Z. S., Sweezey, N., Grasemann, H., & Palaniyar, N. (2019). Progression of cystic fibrosis lung disease from childhood to adulthood: neutrophils, neutrophil extracellular trap (NET) formation, and NET degradation. Genes, 10(3), 183. Edema wk. 1 Discussion Paper