Case Study: MS X - Acid-Base Imbalance and Genetic Disorder

This case study focuses on the medical condition of MS X, presenting a detailed analysis of her acid-base imbalance and sickle cell anemia. The assignment addresses key aspects of her condition, including the diagnosis of metabolic acidosis, the role of diarrhea in causing bicarbonate loss, and the resulting potassium imbalance. The study delves into the body's compensatory mechanisms for the acid-base disorder and the use of the anion gap in differentiating causes. Furthermore, the assignment explores the genetic alteration leading to sickle cell anemia, including a Punnett Square analysis of her parents' genotypes and her chances of having the sickle cell trait. The study concludes by identifying potential complications and the necessary monitoring required for MS X's health management. This case study provides a comprehensive understanding of the patient's condition and the related medical concepts.

Running Head: MS X CASE STUDY 1
MS X CASE STUDY
Name
Institution

MS X CASE STUDY 2
Q1. The clinical scenario is most consistent with which acid-base disorder?
The clinical scenario is consistent with Metabolic acidosis.
Q 2. What data in the clinical scenario supports your diagnosis?
Low Co2 level of 18mEq/L
Q 3. What caused this person's acid-base imbalance?
Diarrhea leading to bicarbonate loss
Q4. How does this acid-base imbalance cause the potassium imbalance noted in this
patient's labs?
This is because the acid-base and potassium homeostasis are well linked. Therefore, the acidosis
makes the chemical potassium move from the cells to the plasma fluid. This is done in the
exchange of alkalosis and the ions of hydrogen. The reason why there was potassium imbalance
in the patient lab was that Acidosis may be affected by hyperkalemia complications. From the
lab, the patient has a high level of potassium which is 5.5mEq/L, higher than the recommended
range ACI. Besides, acid-base disorders affect normal acid-base balance and may affect the
blood PH (McCance,2019). The severe increase of the potassium may lead to the death of the
patient.

MS X CASE STUDY 3
Q5. How does the body compensate for the acid-base disorder which this patient is
experiencing?
Increase or reduction of acidity beyond normal hastens compensation mechanisms to return the
blood PH to its normal state. Respiratory organs are responsible for compensating for metabolic
disturbances while on the other end metabolic processes balance the respiratory disturbances. In
this case for the patient, the lungs are responsible for compensating the hyperventilation. The
cause of alteration in acid balance is caused by the changes in the pulmonary alveoli ventilation.
This is because hypoventilation may automatically produce acidosis while the hyperventilation
in return produces alkalosis (McCance, 2019). The main aim of PH regulation is to absorb
HCO3, remove H+ in the form of acid or Ammonia.
Q6. How does the anion gap help you to differentiate between the causes of this acid-base
disorder?
Metabolically acidosis is mostly related to hyperkalemia while on the other end alkalosis is
associated with hypokalemia. Besides, respiratory processes in the balance of the acid-base cause
little or no effect in potassium distribution. The union gap of the patient is 10mEq/L which is
recommended and it’s in a normal state. A normal anion means that acidosis may be caused by
GI losses. When this happens, the reasons experience diarrhea. In a normal gap anion,
hydrogenation carrying extracellular medium enters the cell and potassium flows to maintain
electroneutrality (McGurk, 2014). The process is less in acidosis in an increased gap produced by

MS X CASE STUDY 4
acids such as acetoacetic acid. Consequently, the electrical gradient for potassium output is
reduced and becomes more permeable and more easily o the cells.
Q7. Describe the genetic alteration which results in sickle cell anemia.
The sickle cell anemia occurs when the body produces red blood cells that are abnormal in shape
and are sickle-shaped. It is a result of mutation HBB gene which is inherited in an autosomal
recessive pattern. The copies of each gene have a mutation. The parents having autosomal
condition may carry the mutated gene but they may not show any sign of sickle cell anemia but
is said to have the sickle trait If two carriers happen to have a child, the child is likely to have the
sickle cell anemia (McCance ,2019).
Q8. Draw a Punnett Square which shows her father as having a heterozygous genotype for
sickle cell and her mother has having a homozygous genotype for sickle cell anemia
S S
S SS
S SS

MS X CASE STUDY 5
Q 9. What was this patient’s chance of having sickle cell trait?
The patient chance is by half ½ or 50%
Q10. Based on the parent’s genotypes, which one has sickle cell trait and which one has
sickle cell anemia?
The mother carries the sickle cell anemia while the father has sickle cell trait
Q11. For what actual or potential complications related to the diagnosis in question 1 does
she need to be monitored?
Ms. X needs to be monitored the level of her potassium since the level is extremely higher than
normal. The diarrhea condition should be treated and the labs should be as well be repeated. If
the lab results show that the PH balance is not restored then the patient should be administered
with bicarbonate.
References

MS X CASE STUDY 6
McCance, K. L., & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in
adults and children (8th ed.). Maryland Heights, Mo.: Mosby Elsevier.
McGurk, S. (2014). Pathophysiology: The Biologic Basis for Disease and Children – Seventh
edition McCance Kathryn L et al Pathophysiology: The Biologic Basis for Disease and
Children – Seventh edition 1864pp £85.99 Elsevier/Mosby 978 0 3230 8854 1 0323088546.
Nursing Standard, 28(48), 30-30. doi: 10.7748/ns.28.48.30.s36