Questions & explanations
1. Compare the ethical issues of using CRISPR to cure sickle cell disease in a child versus using it in an adult.
For a child, gene editing might offer a lifelong cure before complications develop. But children cannot fully consent, so parents decide, and the child's future is affected. There is also concern about long-term effects that might appear later in life. For an adult, they can give full informed consent and understand the risks. However, adults may have already suffered organ damage from sickle cell disease, so the benefit might be less. Both cases raise concerns about unintended genetic changes. But in children, the ethical stakes are higher because changes affect a developing body and could be passed on if germline cells are edited. So many experts think gene editing should first be tested in adults before considering children.
2. Compare the use of blood transfusions in a well-resourced hospital versus a low-resource clinic for a child with sickle cell disease having a severe pain crisis.
In a well-resourced hospital, doctors can give transfusions quickly and safely to treat severe anemia or prevent stroke. They have enough blood units and can test for infections. In a low-resource clinic, transfusions are used only in life-threatening situations because blood is limited and testing may not be available. Instead, the clinic relies on hydroxyurea to prevent crises and on pain medicines for acute episodes. Both settings aim to reduce sickling, but the low-resource clinic focuses on prevention with hydroxyurea. The well-resourced hospital can use transfusions more freely for complications. So the main difference is that low-resource settings reserve transfusions for emergencies only.
3. What is Cushing syndrome in children?
Cushing syndrome is a condition where the body has too much cortisol, a stress hormone. In children, it is most often caused by taking strong steroid medicines for a long time (exogenous). Less often, it is due to a tumor in the pituitary gland (Cushing disease) or adrenal gland that makes too much cortisol. Symptoms include rapid weight gain, especially in the face and belly, thin skin that bruises easily, and slow growth. High blood pressure and high blood sugar are common. Diagnosis involves measuring cortisol levels in urine, saliva, or blood after a special test. Treatment depends on the cause: stopping steroids, surgery to remove a tumor, or medicines to block cortisol.
4. How is heart failure managed in children?
Heart failure in children means the heart cannot pump enough blood. Causes include congenital heart disease, cardiomyopathy, or arrhythmias. Management includes diuretics (furosemide) to reduce fluid overload, ACE inhibitors (enalapril) to lower blood pressure and reduce workload, and beta-blockers (carvedilol) to improve heart function. For severe cases, inotropic drugs like milrinone are given intravenously. Children may need oxygen or mechanical ventilation. If medical therapy fails, heart transplant is considered. Regular monitoring of weight, fluid intake, and echocardiograms is essential. Nutritional support is important because heart failure increases energy needs.
5. How do ethical concerns about gene editing (CRISPR) differ from concerns about standard treatments for sickle cell disease?
Standard treatments like hydroxyurea or transfusions only manage symptoms and are not permanent. Gene editing with CRISPR aims to fix the genetic cause of sickle cell disease by changing DNA. A major ethical concern is that changes to DNA could be passed to future children if done in reproductive cells. Also, CRISPR might cause unintended changes in other genes, leading to new health problems. Standard treatments do not change genes, so they have no risk of heritable effects. Another concern is that gene editing might be expensive and only available to rich people, creating inequality. So CRISPR raises deeper ethical questions about altering human heredity and fairness.
6. Give an example of an ethical dilemma when enrolling a child with leukemia in a clinical trial for a new drug.
Suppose a child has leukemia that is not responding to standard chemotherapy. A new drug is being tested that might help, but it has unknown side effects. The parents want to try anything to save their child. The ethical dilemma is balancing hope for a cure against the risk of harming the child with an untested drug. The doctor must explain that the drug might not work and could cause severe side effects. The child's assent must also be sought if possible. The research team must ensure the child is not just being used for science. They must also offer the option to stop the trial at any time. This dilemma requires careful thought about the child's best interests.
7. A premature infant develops bronchopulmonary dysplasia (BPD). What does this mean and how is it treated?
BPD is chronic lung disease in premature infants who needed oxygen or mechanical ventilation for respiratory distress syndrome. It results from lung injury and inflammation. Treatment includes supplemental oxygen to keep oxygen saturation >90%, diuretics (furosemide) to reduce lung fluid, and bronchodilators (albuterol) to open airways. Corticosteroids (dexamethasone) may be used but have side effects. Nutrition is important for lung growth; high-calorie feeds are given. Infants may need home oxygen and monitoring. Most improve over time, but some develop asthma-like symptoms. Prevention includes avoiding excessive oxygen and using gentle ventilation strategies.
8. Why is oral iron not given to children with sickle cell disease, even if they are anemic?
Children with sickle cell disease often have anemia because their red blood cells break down quickly. But giving them oral iron is harmful because their bodies already have too much iron from repeated blood transfusions or from the breakdown of red blood cells. Extra iron builds up in organs like the heart and liver, causing damage. In sickle cell disease, the anemia is not due to iron deficiency but to the destruction of sickled cells. So doctors check iron levels before prescribing iron. Instead of iron, they use hydroxyurea or transfusions to manage anemia. Oral iron is only given if tests show a true iron deficiency, which is rare in sickle cell disease.
9. Compare the challenges a young adult with sickle cell disease might face in adult care versus pediatric care.
In pediatric care, parents often manage appointments, medicines, and communication with doctors. The care team is used to dealing with families and may be more flexible. In adult care, the young adult is expected to be independent. They must schedule their own appointments, fill prescriptions, and talk directly to doctors. Adult clinics may have longer wait times and less support for social needs. Also, adult hematologists may be less familiar with sickle cell disease if they mainly see other blood disorders. The young adult might feel lost without the familiar pediatric team. This is why transition planning is crucial to prepare them for these differences.
10. A child with immune thrombocytopenia (ITP) has a platelet count of 15,000 and mild bruising. What is the first-line treatment?
ITP is a condition where the immune system destroys platelets, causing low counts and bleeding risk. For a child with mild symptoms and platelets above 10,000, observation alone may be enough because many recover spontaneously. However, if treatment is needed (e.g., platelets below 10,000 or significant bleeding), first-line therapy is intravenous immunoglobulin (IVIG) or corticosteroids like prednisone. IVIG works by blocking platelet destruction and raises counts quickly within 1-2 days. Prednisone takes longer but is cheaper. Anti-D immunoglobulin can be used in Rh-positive children. Most children recover within months, but some develop chronic ITP.
11. Compare the psychological impact of chronic pain in a child with sickle cell disease versus a child with hemophilia.
Both conditions cause chronic pain, but the nature differs. Sickle cell pain comes from blocked blood vessels and can be sudden and severe, leading to frequent hospital visits. This can cause anxiety and depression because the child never knows when pain will strike. Hemophilia pain is usually from bleeding into joints, which can be constant and lead to disability over time. Children with hemophilia may fear movement because it could cause a bleed. Both can feel isolated from peers. However, sickle cell pain is often more unpredictable, while hemophilia pain is more linked to activity. Both benefit from psychological support to manage fear and sadness.
12. How is febrile neutropenia managed in a child undergoing chemotherapy?
Febrile neutropenia is a fever in a child with low neutrophil counts (a type of white blood cell that fights infection) due to chemotherapy. It is a medical emergency because the child cannot fight infections. Management includes immediate hospitalization, blood cultures, and broad-spectrum intravenous antibiotics like cefepime or piperacillin-tazobactam. The child is monitored for signs of sepsis. If fever persists, antifungal therapy may be added. Growth factors like G-CSF (granulocyte colony-stimulating factor) can be given to speed neutrophil recovery. The child stays on antibiotics until the fever resolves and neutrophil count rises above 500.