Scenario 1: Acute Lymphoblastic Leukemia (ALL)

An 11-year-old boy is brought to the clinic by his parents who state that the boy has not been eating and is 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 mentions that his bones hurt sometimes. The mother states the child has had intermittent fevers that respond to acetaminophen.

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

Patient Medical History (PMH): Negative. The child easily reached developmental milestones.

Physical Examination (PE): Reveals a thin, very pale child with bruises on his arms and legs in no particular pattern.

Laboratory Results (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 the patient is immediately referred to the Emergency Room where a pediatric hematologist has been consulted and is waiting for the boy and his parents.

Confirmed Diagnosis (DX): Acute lymphoblastic leukemia (ALL) was made after extensive testing.

Question 1: Explain what ALL is?

Selected Answer: Acute lymphocytic leukemia (ALL) is also called acute lymphoblastic leukemia. Acute means that leukemia can progress quickly and, if not treated, would probably be fatal within a few months. Lymphocytic means it develops from immature forms of lymphocytes, a type of white blood cell. ALL is a malignant, clonal disease of the bone marrow in which early lymphoid precursors proliferate and replace the normal hematopoietic cells of the marrow. In most cases, the leukemia cells invade the blood quickly. They can also sometimes spread to other parts of the body, including the lymph nodes, liver, spleen, central nervous system, and testicles (in males). Acute lymphocytic leukemia is the most common type of cancer in children, and treatments result in a good chance of a cure. Acute lymphocytic leukemia can also occur in adults, though the chance of a cure is greatly reduced. Signs and symptoms of acute lymphocytic leukemia may include: bleeding from the gums, bone pain, fever, frequent infections, frequent or severe nosebleeds, lumps caused by swollen lymph nodes in and around the neck, armpits, abdomen or groin, pale skin, shortness of breath, weakness, fatigue or a general decrease in energy.

Correct Answer: Acute lymphoblastic leukemia (ALL) is a malignant (clonal) disease of the bone marrow in which early lymphoid precursors proliferate and replace the normal hematopoietic cells of the marrow. ALL is the most common type of cancer and leukemia in children in the United States. The malignant cells of acute lymphoblastic leukemia (ALL) are lymphoid precursor cells (ie, lymphoblasts) that are arrested in an early stage of development. This arrest is caused by an abnormal expression of genes, often as a result of chromosomal translocations or abnormalities of chromosome number. These aberrant lymphoblasts proliferate, reducing the number of the normal marrow elements that produce other blood cell lines (red blood cells, platelets, and neutrophils). Consequently, anemia, thrombocytopenia, and neutropenia occur, although typically to a lesser degree than is seen in acute myeloid leukemia. Lymphoblasts can also infiltrate outside the marrow, particularly in the liver, spleen, and lymph nodes, resulting in enlargement of the latter organs.

Response Feedback: [None Given]

Question 2: Why does ARF occur in some patients with ALL?

Selected Answer: Renal injury in ALL is common and can occur through many different mechanisms, including prerenal acute kidney injury, acute tubular necrosis, reno-vascular disease, obstruction, glomerulonephritis, and parenchymal infiltration of tumor cells. Although renal involvement is not uncommon in ALL, renal failure is rarely a presenting symptom in ALL and is thought to be a poor prognosis indicator. Leukemic may lead to significant impairment of renal function if it is bilateral and diffuse, particularly involving the cortical region. Acute renal failure in patients with acute leukemia is usually a consequence of a chemotherapeutic regimen, leading to tumor lysis syndrome—the tumor lysis syndrome results in acute uric acid and calcium phosphate nephropathy. The most common form of kidney injury in leukemia is related to prerenal AKI in the setting of volume depletion. When infiltration is suspected, kidney biopsy is typically recommended as the extent of infiltration can give prognostic information regarding the malignancy as the rate of infiltration parallels the stage and grade of the disease.

Correct Answer: Renal failure as a result of hyperuricemia can be associated with ALL, particularly at diagnosis or during active treatment. Uric levels rise as an end product of purine metabolism from cellular destruction. Because the major excretory pathway is through the kidneys, urates can precipitate

Response Feedback: [None Given]

Question 1: Elaborate on Acute Lymphoblastic Leukemia (ALL)

Selected Response: Acute lymphocytic leukemia (ALL), also known as acute lymphoblastic leukemia, is a swiftly progressing form of leukemia. If left untreated, it can prove fatal within a few months. The term “lymphocytic” indicates that it originates from immature forms of lymphocytes, a type of white blood cell. ALL is characterized as a malignant, clonal disease of the bone marrow, where early lymphoid precursors proliferate and replace the normal hematopoietic cells. Typically, the leukemia cells rapidly invade the bloodstream and may spread to various body parts, such as the lymph nodes, liver, spleen, central nervous system, and testicles in males. This type of leukemia is most prevalent in children and boasts a favorable prognosis with treatment, often resulting in a cure. While acute lymphocytic leukemia can also occur in adults, the likelihood of a cure is significantly reduced. Common signs and symptoms include bleeding from the gums, bone pain, fever, frequent infections, nosebleeds, swollen lymph nodes, pale skin, shortness of breath, weakness, fatigue, or a general decrease in energy.

Correct Response: Acute lymphoblastic leukemia (ALL) constitutes a malignant (clonal) disease affecting the bone marrow, where early lymphoid precursors proliferate, displacing the normal hematopoietic cells. This form of cancer is the most prevalent type of leukemia in children in the United States. The malignant cells in acute lymphoblastic leukemia (ALL) are lymphoid precursor cells, also known as lymphoblasts, arrested in an early stage of development. This arrest is often a consequence of abnormal gene expression due to chromosomal translocations or abnormalities in chromosome number. The aberrant lymphoblasts proliferate, diminishing the number of normal marrow elements responsible for producing other blood cell lines, such as red blood cells, platelets, and neutrophils. Consequently, anemia, thrombocytopenia, and neutropenia occur, although typically to a lesser extent than observed in acute myeloid leukemia. Lymphoblasts may also infiltrate outside the marrow, particularly in the liver, spleen, and lymph nodes, leading to enlargement of these organs.

Response Feedback: [None Given]

Pediatric disorders introduce distinct challenges for patients, families, and healthcare providers. The complexity arises from the fact that young patients may face difficulties in effectively communicating their symptoms. Additionally, the manifestation of diseases and disorders in children can be unique, adding further intricacy to the diagnostic and treatment process.

APRNs working to support these patients and their loved ones must demonstrate not only support and compassion, but expertise to communicate and guide understanding of diagnoses and treatment plans. This includes an understanding of disease and disorders at the pediatric level.

This week, you examine pathophysiology in pediatrics. You apply key terms, concepts, and principles in this area to demonstrate an understanding of the impact they have on altered physiology in children.
Learning Objectives NURS 6501 Knowledge Check Pediatrics

Students will:

Analyze concepts and principles of pathophysiology across the lifespan

Learning Resources

Required Readings (click to expand/reduce)

McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.

Chapter 14: Cancer in Children, including Summary Review
Chapter 20: Alterations of Neurologic Function in Children (stop at Childhood tumors); Summary Review
Chapter 34: Alterations of Cardiovascular Function in Children (stop at Defects

decreasing pulmonary blood flow); Summary Review
Chapter 37: Alterations of Pulmonary Function in Children (stop at Congenital malformations); Summary Review
Chapter 40: Alterations of Renal and Urinary Tract Function in Children, including Summary Review
Chapter 43: Alterations of Digestive Function in Children, including Summary Review
Chapter 46: Alterations of Musculoskeletal Function in Children (stop at Avascular diseases); (start at Cerebral palsy) (musculoskeletal tumors in children); Summary Review
Chapter 48: Alterations of the Integument in Children, including Summary Review
NURS 6501 Knowledge Check Pediatrics Chapter 50: Shock, Multiple Organ Dysfunction Syndrome, and Burns in Children, including Summary Review

U.S. National Library of Medicine. (2019). Normal growth and development. Retrieved from https://medlineplus.gov/ency/article/002456.htm

Document: NURS 6501 Final Exam Review (PDF document)

Note: Use this document to help you as you review for your Final Exam in Week 11.

Required Media (click to expand/reduce)

Knowledge Check: Pediatrics

In this exercise, you will complete a 10- to 20-essay type question Knowledge Check to gauge your understanding of this module’s content.

Possible topics covered in this Knowledge Check include:
Growth and development
Normal growth patterns
Scoliosis (ortho)
Kawasaki
Alterations in children
Congenital (heart syndrome)
PDAs
Sudden Infant Death Syndrome (SIDS)
Asthma
Lead poisoning and effects on neurological functioning
Sickle cell
Hemophilia

Photo Credit: laflor / E+ / Getty Images

(Note: It is strongly recommended that you take the Knowledge Check at least 48 hours before taking the Final Exam.)
Complete the Knowledge Check By Day 5 of Week 11

To complete this Knowledge Check:

Module 8 Knowledge Check

Final Exam

This 101-question exam is a test of your knowledge in preparation for your certification exam. No outside resources, including books, notes, websites, or any other type of resource, are to be used to complete this exam. You are expected to comply with Walden University’s Code of Conduct.

This exam will be on topics covered in Weeks 7, 8, 9, 10, and 11. Prior to starting the exam, you should review all of your materials. This exam is timed with a limit of 2 hours for completion. When time is up, your exam will automatically submit.

(Note: It is strongly recommended that you take the Knowledge Check at least 48 hours before taking the Final Exam.)

Photo Credit: Getty Images

By Day 7 of Week 11

Complete and submit your Final Exam.

To complete your exam:

Final Exam

What’s Coming Up?

Congratulations! After you have finished all of the assignments for this week, you have completed the course. Please submit your Course Evaluation by Day 7.

Results Displayed All Answers, Submitted Answers, Correct Answers, Feedback, Incorrectly Answered Questions

Question 1

1 out of 1 points

Correct

An adolescent that uses anabolic steroids to increase muscle mass is at risk for developing which type of cancer?
Selected Answer:
Correct

Hepatocellular carcinoma
Answers:

Neuroblastoma

Acute myelogenous leukemia

Vaginal adenocarcinoma

Correct

Hepatocellular carcinoma
Question 2

1 out of 1 points

Correct

Which of the following about Roseaola is FALSE?
Selected Answer:
Correct

severely pruritic
Answers:

is also known as exanthema subitum

Correct

severely pruritic

rash appears after high fever

most common in infants
Question 3

1 out of 1 points

Correct

Children who have inherited deficiencies of antithrombin III or proteins C or S have increased risk for _______________
Selected Answer:
Correct

Thrombosis
Answers:

Hemorrhage

Sickle cell anemia

Correct

Thrombosis

Anemia
Question 4

0 out of 1 points

Incorrect

Which of the following characteristics of Impetigo is FALSE?
Selected Answer:
Incorrect

Commonly caused by staphylococci
Answers:
Correct

Is mildly contagious

Commonly caused by staphylococci

class lesions are honey colored crusts

outbreaks usually begin with vesicles
Question 5

1 out of 1 points

Correct

A child with Fanconi anemia is at risk for developing which type of cancer?
Selected Answer:
Correct

Acute myelogenous leukemia
Answers:

Neuroblastoma

Correct

Acute myelogenous leukemia

Vaginal adenocarcinoma

Hepatocellular carcinoma
Question 6

1 out of 1 points

Correct

Children who have atopic dermatitis often have elevated levels of ______________________.
Selected Answer:
Correct

IgE
Answers:
Correct

IgE

IgM

IgG

IgN
Question 7

1 out of 1 points

Correct

What is the function of G6PD?
Selected Answer:
Correct

It is a normal enzyme that protects erythrocytes from oxidative damage
Answers:

It is an enzyme that causes the breakdown of red blood cells

Correct

It is a normal enzyme that protects erythrocytes from oxidative damage

It is an enzyme that causes the formation of red blood cells

It is an enzyme that inhibits coagulation
Question 8

1 out of 1 points

Correct

During the first five years of life, the respiratory system continues to develop and the number of what structure increases?
Selected Answer:
Correct

alveoli
Answers:

conducting airways

Correct

alveoli

bronchi

bronchioles
Question 9

1 out of 1 points

Correct

Red, round, and scaling patches with a clear center that occur mostly on the face, trunk, and limbs in an asymmetrical distribution describes which of the following conditions?
Selected Answer:
Correct

Tinea corporis
Answers:

Atopic dermatitis

Correct

Tinea corporis

Impetigo

Staphylococcal scalded-skin syndrome
Question 10

1 out of 1 points

Correct

Rotavirus is the leading cause of what symptom in infants and young children?
Selected Answer:
Correct

acute diarrhea
Answers:
Correct

acute diarrhea

necrotizing enterocolitis

constipation

abdominal pain
Question 11

1 out of 1 points

Correct

A ventricular septal defect will cause what type of blood shunting?
Selected Answer:
Correct

Left to right
Answers:
Correct

Left to right

Right to left

No shunt
Question 12

1 out of 1 points

Correct

Respiratory distress syndrome in the newborn is caused by the deficiency of what substance?
Selected Answer:
Correct

surfactant
Answers:

fibrin

hemoglobin

Correct

surfactant

iron
Question 13

1 out of 1 points

Correct

The most common cause of chronic hepatitis in children is:
Selected Answer:
Correct

B and C
Answers:

A and B

A and C

Correct

B and C

B and D
Question 14

1 out of 1 points

Correct

Von Willebrand disease is a genetic condition that causes: (thrombotic, hemorrhagic) condition.
Selected Answer:
Correct

hemorrhage
Answers:

thrombosis

Correct

hemorrhage

anemia

infection
Question 15

1 out of 1 points

Correct

What medication should a child with G6PD deficiency avoid because it can trigger a hemorrhage?
Selected Answer:
Correct

aspirin
Answers:

Vitamin D

iron

penicillin

Correct

aspirin
Question 16

1 out of 1 points

Correct

Pruritic linear lesions that itch more at night that may have more vesicles and papules describes which of the following conditions?
Selected Answer:
Correct

Scabies
Answers:

Atopic dermatitis

Tinea corporis

Impetigo

Correct

Scabies
Question 17

1 out of 1 points

Correct

Children with Down’s Syndrome has an increased risk of developing which type of cancer?
Selected Answer:
Correct

Leukemia
Answers:

Retinoblastoma

Correct

Leukemia

Wilms tumor

Neuroblastoma
Question 18

1 out of 1 points

Correct

Which of the following is true of people that have sickle cell anemia?
Selected Answer:
Correct

People who have sickle cell anemia have two copies of the mutated gene and produce only hemoglobin S
Answers:
Correct

People who have sickle cell anemia have two copies of the mutated gene and produce only hemoglobin S

People who have sickle cell anemia have one mutated gene and produce a mixture of hemoglobin A and hemoglobin S

People who have sickle cell anemia have one copy of the mutated gene and produce only hemoglobin A

People who have sickle cell anemia have two copies of the mutated gene and produce a mixture of hemoglobin A and hemoglobin S
Question 19

1 out of 1 points

Correct

The development of Kawasaki disease in young children is caused by:
Selected Answer:
Correct

vasculitis of unknown cause
Answers:
Correct

vasculitis of unknown cause

Epstein Barr Virus

Genetic malformation

Medication interation
Question 20

1 out of 1 points

Correct

Cerebral palsy involves what type of defects?
Selected Answer:
Correct

motor
Answers:
Correct

motor

sensory

cognitive

developmental

Question 5

4 out of 4 points

	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 1.     What is the pathophysiology of Hemophilia
	Selected Answer: Hemophilia is the most prevalent severe hereditary bleeding disorder and is characterized by the inability to form thrombi in response to injury, resulting in continuous bleeding. Both hemophilia A and B result from mutations in the F8 gene and F9 gene. Changes or mutations of the genes result in deficiency or dysfunction of clotting factors VIII and IX, respectively. Specifically, “inversions in introns 1 and 22 of the factor VIII gene are the most frequently observed mutations and account for most severe cases of hemophilia A” . Another type of mutation that may result in hemophilia is a point mutation. In this instance, a single nucleotide in the DNA is added, deleted, or changed. When these alterations take place, the amino acid chain is typically destroyed. Otherwise, the protein chain can disrupt protein function, inhibit intracellular processing, or result in protein clearance. Correct Answer: Hemophilia A is caused by an inherited or acquired genetic mutation that results in dysfunction or deficiency of factor VIII, or by an acquired inhibitor that binds © 2020 Walden University 5 factor VIII. Of genetic cases, up to approximately one third are the result of de novo mutations not present in the mother’s X chromosome. Inadequate factor VIII results in the insufficient generation of thrombin by the FIXa and FVIIIa complex by means of the intrinsic pathway of the coagulation cascade. This mechanism, in combination with the effect of the tissue-factor pathway inhibitor, creates an extraordinary tendency for impaired clotting in response to trauma and, especially in persons with severe hemophilia, with spontaneous bleeding. Response Feedback: [None Given]

Scenario 1: Acute Lymphoblastic Leukemia (ALL)

Question 1:  Explain what ALL is. 

ALL is a type of blood and bone marrow cancer characterized by the production of too many lymphocytes by the bone marrow. The characteristic feature of ALL is chromosomal abnormalities and genetic changes involved in the differentiation and proliferation of lymphoid precursor cells (Malard & Mohty, 2020). The pathogenesis of ALL entails abnormal proliferation and differentiation of a clonal population of lymphoid cells. It is classified into L1, L2, and L3. L1 is the most common form found in children and has the best prognosis (Malard & Mohty, 2020). L2 is the most frequent ALL found in adults. L3 is the rarest form of ALL. Common symptoms include pallor, fatigue, weakness, fever, weight loss, abnormal bleeding and bruising, and lymphadenopathy.

References

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

Question 2: Why does ARF occur in some patients with ALL?

Acute kidney injury and acute renal failure (ARF) are documented complications of ALL. Kidney infiltration is prevalent in hematologic malignancies like ALL and occurs in 60-90% of patients. Rose et al. (2019) explain that acute kidney injury is seen in some patients with ALL and is caused by leukemic infiltration. Leukemic infiltrates are caused by uric acid nephropathy that results in renal enlargement and ARF. ARF in patients with ALL is considered to be caused by acute tubular compression and microvasculature disruption, causing acute tubular necrosis (Prada Rico et al., 2020). The symptoms linked with kidney infiltration secondary to ALL include flank pain, hematuria, and frothy urine.

References

Prada Rico, M., Rodríguez-Cuellar, C. I., Arteaga Aya, L. N., Nuñez Chates, C. L., Garces Sterling, S. P., Pierotty, M., González Chaparro, L. E., & Gastelbondo Amaya, R. (2020). Renal involvement at diagnosis of pediatric acute lymphoblastic leukemia. Pediatric reports, 12(1), 8382. https://doi.org/10.4081/pr.2020.8382

Rose, A., Slone, S., & Padron, E. (2019). Relapsed Acute Lymphoblastic Leukemia Presenting as Acute Renal Failure. Case reports in nephrology, 2019, 7913027. https://doi.org/10.1155/2019/7913027

Question 3: Elaborate on the Pathophysiology of Acute Sickle Cell Disease (SCD) Crisis and the Dominance of Pain as a Feature

Sickle Cell Disease (SCD) crisis is marked by the sudden onset of throbbing, sharp pain, predominantly affecting joints, the lower back, and extremities. According to Darbari et al. (2020), the pathophysiology of SCD crisis is a multifaceted process involving the occlusion of small blood vessels by sickled red blood cells and adherent blood cells. This process also encompasses thrombosis, large-vessel intimal hyperplasia, and the embolization of bone marrow fat, collectively contributing to hypoxia, ischemia, and tissue inflammation and damage. The unique combination of hypoxia, ischemic tissue damage, and inflammation distinguishes the pain experienced during SCD crisis. The accumulation of sickled red blood cells and other adherent cells induces vaso-occlusion in smaller vessels even without an inflammatory trigger (Jang et al., 2021).

Moreover, the ischemia-reperfusion injury resulting from microvascular occlusions triggers chronic inflammation by escalating the production of oxidants and increasing leukocyte adhesion. This cascade of events further exacerbates SCD crisis, amplifying tissue damage. The intricacies of these processes shed light on why pain takes center stage as the predominant feature of acute SCD crises.

References

Darbari, D. S., Sheehan, V. A., & Ballas, S. K. (2020). The vaso‐occlusive pain crisis in sickle cell disease: definition, pathophysiology, and management. European Journal of Hematology, 105(3), 237–246. https://doi.org/10.1111/ejh.13430

Jang, T., Poplawska, M., Cimpeanu, E., Mo, G., Dutta, D., & Lim, S. H. (2021). Vaso-occlusive crisis in sickle cell disease: a vicious cycle of secondary events. Journal of Translational Medicine, 19(1), 1–11. https://doi.org/10.1186/s12967-021-03074-z

Question 1

4 / 4 pts

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

1.     Explain what ALL is?  

Your Answer:

Acute Lymphoblastic Leukemia (ALL) is a type of cancer that primarily affects the blood and bone marrow. It is characterized by the uncontrolled proliferation of immature white blood cells, specifically lymphoblasts, which are a type of white blood cell involved in the immune system. In a healthy individual, these cells mature into different types of lymphocytes that play crucial roles in defending the body against infections.

In ALL, the abnormal lymphoblasts accumulate in the bone marrow, interfering with the production of normal blood cells, including red blood cells, white blood cells, and platelets. As a result, the bone marrow becomes overcrowded with cancerous cells, leading to a decrease in the production of healthy blood cells.

The symptoms described in the scenario, such as fatigue, paleness, bruising, bone pain, and fever, are common manifestations of ALL. The reduced number of red blood cells (anemia) leads to fatigue and pallor, while the decreased platelet count contributes to easy bruising and bleeding. The bone pain could be a result of the overcrowding of the bone marrow with cancerous cells.

Question 2

4 / 4 pts

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

1.     Why does ARF occur in some patients with ALL? 

Your Answer:

Acute Renal Failure (ARF) can occur in some patients with Acute Lymphoblastic Leukemia (ALL) due to multiple factors. The rapid breakdown of leukemic cells, often seen in the initial stages of treatment, can result in Tumor Lysis Syndrome (TLS), leading to an overload of electrolytes and waste products in the bloodstream that overwhelms the kidneys’ filtering capacity. Additionally, chemotherapy, while targeting cancer cells, can inadvertently damage healthy cells including those in the kidneys, contributing to kidney dysfunction. Leukemic cells infiltrating the kidneys can disrupt their normal function, infections and sepsis can trigger a systemic inflammatory response affecting kidney blood flow, and the overall physical stress of ALL symptoms, such as reduced fluid intake and vomiting, can lead to dehydration and hypovolemia. This combination of factors can lead to renal failure, characterized by elevated blood urea nitrogen (BUN) and creatinine levels, requiring prompt and targeted intervention to manage kidney dysfunction alongside the treatment of ALL.

Question 3

4 / 4 pts

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

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

Your Answer:

Acute Sickle Cell Crisis in Sickle Cell Disease (SCD) is characterized by the blockage of small blood vessels due to clumping of misshapen red blood cells, causing reduced blood flow and tissue oxygenation. This vaso-occlusion triggers inflammation, activating pain receptors in the affected areas, resulting in severe pain. Additionally, the cycle of blockage and release during vaso-occlusion leads to tissue damage and further inflammation, intensifying the pain. This complex process involving vaso-occlusion, inflammation, tissue ischemia, and pain receptor activation collectively makes pain the predominant feature of acute SCD crises.

Question 4

4 / 4 pts

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

1.     Discuss the genetic basis for SCD.

Your Answer:

Sickle Cell Disease (SCD) is caused by a genetic mutation in the beta-globin gene, resulting in the production of abnormal hemoglobin S (HbS). HbS causes red blood cells to become rigid and take on a sickle shape, leading to blockages in blood vessels (vaso-occlusion), reduced oxygen delivery, tissue damage, and acute pain episodes. SCD is inherited in an autosomal recessive manner, requiring two copies of the mutated gene for the disease to manifest. Carriers of one normal and one mutated gene have sickle cell trait.

Question 5

4 / 4 pts

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

1.     What is the pathophysiology of Hemophilia 

Your Answer:

Hemophilia is a genetic bleeding disorder where there is a deficiency or dysfunction of a specific clotting factor (factor VIII in hemophilia A or factor IX in hemophilia B). This disruption in the clotting cascade leads to ineffective formation of stable blood clots. As a result, individuals with hemophilia experience prolonged bleeding after injuries or trauma, as well as spontaneous bleeding into joints and soft tissues. Diagnosis involves measuring clotting factor levels, and treatment includes replacing the deficient clotting factor to control bleeding and prevent complications.