ATI RN
ATI Hematologic System Questions
Question 1 of 5
You examine a 10-year-old boy with severe aplastic anemia. He has no dysmorphic features and is at the 50th percentile for height and weight. Family history includes a sister with aplastic anemia unresponsive to anti-human thymocyte globulin (ATG) and cyclosporine who died early in the course of an unrelated donor hematopoietic stem cell transplant complicated by severe mucositis and transplant-related organ toxicities. There are no other siblings. A cousin died of acute myeloid leukemia at age 5 years. A peripheral blood sample test for Fanconi anemia is negative with no increased chromosomal breaks in response to diepoxylbutane or mitomycin C. Which of the following is the most important next step in management?
Correct Answer: D
Rationale: The correct answer is D: Send a skin fibroblast culture for Fanconi anemia testing. This is the most important next step in management because the patient's history, including a family member with aplastic anemia and a cousin with leukemia, raises suspicion for a genetic disorder like Fanconi anemia. Testing skin fibroblasts for Fanconi anemia can help confirm or rule out this diagnosis. Administering ATG and cyclosporine (choice A) may not be effective if the underlying cause is a genetic disorder. Searching for a donor for matched unrelated transplant (choice B) is premature without confirming the diagnosis. Sending a bone marrow aspirate for Fanconi anemia testing (choice C) may not yield accurate results as the peripheral blood sample test was negative, making skin fibroblast culture the preferred choice.
Question 2 of 5
A 4-year-old male child presents to the emergency department with his fourth invasive Staph infection. CBC consistently identifies moderate neutropenia. Sophisticated lab testing identifies lack of Toll-like receptor responses. The patient undergoes whole exome sequencing and is found to have pathogenic variants in IRAK4. What does 'IRAK4' stand for?
Correct Answer: C
Rationale: The correct answer is C: Interleukin-1 receptor-associated kinase 4 (IRAK4). 1. IRAK4 is involved in the immune response pathway triggered by interleukin-1 receptor signaling. 2. Lack of Toll-like receptor responses in the patient aligns with the role of IRAK4 in the interleukin-1 receptor pathway. 3. Pathogenic variants in IRAK4 can lead to immunodeficiency, explaining recurrent Staph infections. 4. Choices A, B, and D do not accurately reflect the known function of IRAK4 and its association with interleukin-1 receptor signaling.
Question 3 of 5
A 4-year-old girl with a history of relapsed pre-B-cell acute lymphoblastic leukemia is being admitted for unrelated donor bone marrow transplantation with cyclophosphamide and total body irradiation conditioning. Pretransplant workup shows the following: Recipient: CMV IgG: negative, CMV IgM: negative, HSV I/II antibody: negative, Varicella IgG: positive (vaccinated), Hepatitis B surface antigen: negative, Hepatitis B surface antibody: positive (vaccinated), Hepatitis B core antibody: negative, Hepatitis C antibody: negative. Donor: CMV IgG: negative, CMV IgM: negative, HSV I/II antibody: positive, Varicella IgG: positive, Hepatitis B surface antigen: negative, Hepatitis B core antibody: negative, Hepatitis C antibody: negative. How should the patient be managed during the admission with respect to infection prophylaxis?
Correct Answer: C
Rationale: The correct answer is C: Antifungal prophylaxis. This patient is at high risk for fungal infections post-bone marrow transplantation due to the conditioning regimen with cyclophosphamide and total body irradiation. CMV and HSV prophylaxis are not indicated as the patient and donor are negative for CMV IgG and IgM and the donor is positive for HSV antibodies. Weekly CMV PCR screening is not necessary in the absence of CMV seropositivity. Valganciclovir for CMV suppression is also not required in this case. Fungal prophylaxis is essential to prevent invasive fungal infections in high-risk patients like this 4-year-old with leukemia.
Question 4 of 5
A 3-month-old female presents to the emergency room with vomiting and abdominal distension. She has a left-side abdominal mass, and an abdominal ultrasound confirms an 8-cm mass arising from the left kidney. Liver lesions are also noted. Nephrectomy is performed and reveals a histologic diagnosis of malignant rhabdoid tumor of the kidney (MRTK). Which of the following is not a true statement about the management of this patient?
Correct Answer: C
Rationale: The correct answer is C: She has an excellent prognosis with surgery, chemotherapy, and radiation. This statement is not true because malignant rhabdoid tumor of the kidney (MRTK) has a poor prognosis, even with aggressive treatment. Here's a breakdown: 1. MRTK is an aggressive and rare tumor that often presents in infancy, supporting statement A. 2. Most patients with MRTK present with metastatic disease, indicating poor prognosis, aligning with statement B. 3. Germline testing for SMARCB1/INI1 mutation is essential due to the genetic predisposition associated with MRTK, supporting statement D. In summary, statement C is incorrect as MRTK typically has a challenging clinical course despite comprehensive treatment approaches.
Question 5 of 5
A 14-year-old Syrian male with beta thalassemia major has relocated to your community as a refugee. He has been receiving chronic transfusion therapy in Turkey for the past 3 years. On his first visit, you notice that his height is below the fifth percentile. He has skin discoloration and hepatosplenomegaly. His mother reports they have not had regular access to chelation therapy. Laboratory testing shows a serum ferritin of 6,200 ng/mL. A cardiac MRI shows grossly normal cardiac function but a T2* value of 9 ms. What is the most likely cause of his short stature?
Correct Answer: D
Rationale: The correct answer is D: Growth hormone deficiency due to iron deposition in the pituitary. Iron deposition in the pituitary gland can lead to impaired production and secretion of growth hormone, resulting in short stature. This is a known complication of beta thalassemia major. The patient's elevated serum ferritin levels and T2* value of 9 ms indicate iron overload, which can cause damage to organs including the pituitary gland. Choices A, B, and C are incorrect because the patient's growth failure is primarily due to the impact of iron deposition on the pituitary gland rather than lack of transfusion, cirrhosis, or ineffective erythropoiesis. Regular chelation therapy is essential to prevent iron overload and its complications in patients with beta thalassemia major.