NURS 6501 Knowledge Check Concepts Of Pediatrics

QUESTION 1

Scenario 1: Acute Lymphoblastic Leukemia (ALL)

An 11-year-old boy is brought to the clinic by his parents who states that the boy has not been eating and listless. The mother also notes that he has been easily bruising without trauma as he says he is too tired to go out and play. He says his bones hurt sometimes. Mother states the child has had intermittent fevers that respond to acetaminophen.

Maternal history negative for pre, intra, or post-partum problems.

PMH: Negative. Easily reached developmental milestones.

PE: reveals a thin, very pale child who has bruises on his arms and legs in no particular pattern.

LABS: CBC revealed Hemoglobin of 6.9/dl, hematocrit of 19%, and platelet count of 80,000/mm³. The CMP demonstrated a blood urea nitrogen (BUN) of 34m g/dl and creatinine of 2.9 mg/dl.

DIAGNOSIS: acute leukemia and renal failure and immediately refers the patient to the Emergency Room where a pediatric hematologist has been consulted and is waiting for the boy and his parents.

CONFIRMED DX: acute lymphoblastic leukemia (ALL) was made after extensive testing.

Question

Explain what ALL is?

ALL is a malignant transformation and proliferation of lymphoid progenitor cells in the blood, bone marrow, and extramedullary sites. It occurs following an abnormal proliferation and differentiation of a clonal population of lymphoid cells. Factors that predispose an individual to ALL include exposure to pesticides, ionizing radiation, certain solvents, and viruses like Epstein-Barr Virus and HIV (Malard & Mohty, 2020). Clinical manifestations of ALL include spontaneous bruising/bleeding, fatigue, and infections. Some patients can have fever, night sweats, and unintentional weight loss. In addition, most adults with ALL have hepatomegaly, splenomegaly, and lymphadenopathy.

QUESTION 2

Scenario 1: Acute Lymphoblastic Leukemia (ALL)

Maternal history negative for pre, intra, or post-partum problems.

PMH: Negative. Easily reached developmental milestones.

PE: reveals a thin, very pale child who has bruises on his arms and legs in no particular pattern.

LABS: CBC revealed Hemoglobin of 6.9/dl, hematocrit of 19%, and platelet count of 80,000/mm3. The CMP demonstrated a blood urea nitrogen (BUN) of 34m g/dl and creatinine of 2.9 mg/dl.

DIAGNOSIS: acute leukemia and renal failure and immediately refers the patient to the Emergency Room where a pediatric hematologist has been consulted and is waiting for the boy and his parents.

CONFIRMED DX: acute lymphoblastic leukemia (ALL) was made after extensive testing.

Question

Why does ARF occur in some patients with ALL?

ARF is a known renal complication of ALL associated with treatment-related side effects like the use of nephrotoxic drugs, tumor lysis syndrome, sepsis, hyperuricemia, and hypercalcemia. Hyperuricemia is an established complication of tumor lysis syndrome, and in most cases, it develops after starting chemotherapy (Patil et al., 2020). However, ARF as an initial presenting feature of ALL is rare. Leukemic infiltrates develop due to uric acid nephropathy causing renal enlargement and eventually ARF. Infiltration has to be bilateral and renal enlargement is normally uniform. Nevertheless, the degree and location of infiltration usually influence prognosis (Patil et al., 2020). Interstitial infiltration is related to ARF, unlike glomerular infiltration, which causes glomerulopathy.

QUESTION 3

Scenario 2: Sickle Cell Disease (SCD)

A 15-year-old male with known sickle cell disease (SCD) present to the ER in sickle cell crisis. The patient is crying with pain and states this is the third acute episode he has had in the last 10-months. Both parents are present and appear very anxious and teary eyed. A diagnosis of acute sickle cell crisis was made.

Question

Explain the pathophysiology of acute SCD crisis. Why is pain the predominate feature of acute crises?

SCD crises occur intermittently and are precipitated by fever, viral infection, and local trauma. Vaso-occlusive or pain crisis is the most common type of SCD crisis. It is caused by tissue hypoxia, causing ischemia and infarction, primarily in the bones, as well as in the lungs, spleen, or kidneys (Inusa et al., 2019). A plastic SCD crisis occurs when bone marrow erythropoiesis delays during acute infection secondary to human parvovirus, during which an acute erythroblastopenia can occur. A painful vaso-occlusive crisis causes excruciating pain in long bones, hands, feet, back, and joints. Hip pain can be caused by avascular necrosis of the femoral head (Inusa et al., 2019).

QUESTION 4

Scenario 2: Sickle Cell Disease (SCD)

Question

Discuss the genetic basis for SCD.

SCD is a genetic disease that is inherited through an autosomal recessive pattern. SCD represents all genotypes having at least one sickle gene, in which HbS makes up at least half the hemoglobin present. A patient with SCD usually has two HbS gene alleles, one inherited from each parent (Inusa et al., 2019). This results in 80-100% of the total hemoglobin being HbS. If a person with SCD gets children, each child inherits one of the two abnormal gene alleles and has a sickle cell trait. As a result, individuals with the sickle cell trait have one normal and one abnormal gene allele for hemoglobin, which are inherited (Inusa et al., 2019). Consequently, half of the hemoglobin chains they produce are abnormal.

QUESTION 5

Scenario 3: Hemophilia

8-month infant is brought into the office due to a swollen right knee and excessive bruising. The parents have noticed bruising about a month ago but thought the bruising was due to the attempts to crawl. They became concerned when the baby woke up with a swollen knee. Infant up to date on all immunizations, has not had any medical problems since birth and has met all developmental milestones.

FH: negative for any history of bleeding disorders or other major genetic diseases.

PE: within normal limits except for obvious bruising on the extremities and right knee. Knee is swollen but no warmth appreciated. Range of motion of knee limited due to the swelling.

DIAGNOSIS: hemophilia A.

Question

What is the pathophysiology of Hemophilia

Hemophilia is a hereditary bleeding disorder caused by deficiencies of clotting factor VIII or IX. It is attributed to deletions, mutations, or inversions affecting the factor VIII or IX gene (Castaman & Matino, 2019). Since these genes are located on the X chromosome, hemophilia primarily affects males. The severity of hemophilia is grouped according to the plasma level of factor VIII or factor IX activity. The severe form of hemophilia is described as a factor level <1% of normal, the moderate form is a factor level of 1-5%, and the mild form is a factor level of 5-40% (Castaman & Matino, 2019). Persons with severe hemophilia often develop hemorrhages into muscles, joints, or soft tissues without obvious causes.

References

Castaman, G., & Matino, D. (2019). Hemophilia A and B: molecular and clinical similarities and differences. Haematologica, 104(9), 1702–1709. https://doi.org/10.3324/haematol.2019.221093

Inusa, B., Hsu, L. L., Kohli, N., Patel, A., Ominu-Evbota, K., Anie, K. A., & Atoyebi, W. (2019). Sickle Cell Disease-Genetics, Pathophysiology, Clinical Presentation and Treatment. International Journal of Neonatal Screening, 5(2), 20. https://doi.org/10.3390/ijns5020020

Malard, F., & Mohty, M. (2020). Acute lymphoblastic leukaemia. Lancet (London, England), 395(10230), 1146–1162. https://doi.org/10.1016/S0140-6736(19)33018-1

Patil, A., Deshpande, R., Dash, S., Bhat, G., & Mehta, S. (2020). Non-oliguric renal failure with nephromegaly as the presenting manifestation of acute lymphoblastic leukemia in a young adult: an unusual case report. Nephrol Renal Dis, 5.