Exam 3

Sickle Cell Disease

Pathophysiology

• Autosomal recessive mutation in the HBS gene.
• Low oxygen levels and stress contribute to red blood cell sickling.
• Sickled cells lead to hemolysis (destruction of red blood cells) and vaso-occlusion (blockage of blood vessels).
• Decreased oxygen delivery results in ischemia (lack of blood flow) and pain.
• Functional asplenia, which is a reduced splenic function, increases the risk of infections.

Signs and Symptoms

• Common symptoms include:
  • Fatigue
  • Pallor (paleness)
  • Jaundice (yellowing of the skin and eyes)
  • Pain crisis (episodes of severe pain).
• In infants, additional symptoms may include:
  • Delayed growth
  • Dactylitis (swelling of fingers or toes).

Diagnostics

• Newborn screening is performed to detect the condition early.
• Key laboratory tests include:
  • Hemoglobin electrophoresis to measure different types of hemoglobin.
  • Common lab findings:
  • Low hemoglobin levels (indicative of anemia).
  • Increased reticulocytes (young red blood cells).
  • Increased bilirubin levels.
  • Blood smear to visualize sickled red blood cells.

Treatment

Pharmacologic Interventions

• Hydroxyurea is used as it increases fetal hemoglobin (HBF), which helps reduce crisis episodes.
• Supplementation with folic acid is needed to support red blood cell production.
• Penicillin prophylaxis:
  • Administered to reduce bacterial infection risk, particularly in children.
• Vaccination is crucial to prevent infections that can trigger a crisis.

Crisis Management

• Management strategies include:
  • Hydration (oral and IV fluids).
  • Pain control using opioids.
  • Oxygen therapy to manage hypoxia.

Safety Alerts

• Monitor for:
  • Fever: must be treated as an emergency.
  • Chest pain and hypoxia: indicative of acute chest syndrome.
  • Neurological deficits: signs of a stroke.
  • Signs of splenic sequestration (enlarged spleen and shock).

Nursing Priorities

• Focus on:
  • Pain management
  • Hydration
  • Oxygenation
  • Monitoring laboratory values and vital signs.
  • Preventing infections.

Patient Education

• Encourage:
  • Frequent hydration to maintain blood flow.
  • Awareness of triggers (dehydration, cold exposure, infections).
  • Medication adherence and rapid care seeking for fever and chest pain.

Hemophilia

Pathophysiology

• Hemophilia is a sex-linked recessive bleeding disorder affecting clotting factors:
  • Hemophilia A: Factor VIII deficiency.
  • Hemophilia B: Factor IX deficiency.
• Results in impaired coagulation leading to prolonged bleeding.

Signs and Symptoms

• Notable symptoms include:
  • Easy bruising
  • Prolonged bleeding after injuries
  • Hemarthrosis (bleeding into joints), leading to pain and swelling.
  • Muscle hematomas (bruises in the muscles)
  • Epistaxis (nosebleeds)
  • Severe cases may lead to spontaneous bleeding.

Treatment

• Treatment primarily involves:
  • Factor replacement therapy for the respective deficiency (Factor VIII or IX).
  • Desmopressin for mild Hemophilia A.
  • Anti-fibrinolytics such as aminocaproic acid to prevent excessive bleeding.
  • R.I.C.E. therapy (Rest, Ice, Compression, Elevation) for joint bleeds.

Safety Considerations

• Head injuries signify an emergency.
• Monitor for joint swelling, pain, and uncontrolled bleeding.
• Advise against intramuscular injections and NSAIDs (nonsteroidal anti-inflammatory drugs).

Education and Nursing Priorities

• Educate on:
  • Avoiding contact sports to reduce injury risk.
  • Use of a soft toothbrush to minimize gum bleeding.
  • Reporting any head trauma or severe joint pain immediately.
• Nursing priorities include:
  • Controlling bleeding
  • Prompt factor administration
  • Joint protection and pain management.

Neoplasm

Definition

• Uncontrolled proliferation of abnormal cells, which can be malignant (cancerous) or benign.

Signs and Symptoms

• Key manifestations include:
  • Unexplained weight loss
  • Fatigue or pallor
  • Persistent infections
  • Pain (including bone pain and headaches)
  • Palpable masses or swelling
  • Neurological changes (e.g., vomiting, seizures).

Diagnostics

• Comprehensive evaluation including:
  • Thorough history taking and physical examination.
  • Imaging studies: CT, MRI, ultrasound for mass evaluation.
  • Blood tests (CBC) to assess for anemia or other abnormalities.
  • Biopsy and possibly bone marrow aspiration for confirmation.

Safety Interventions

• Focus on:
  • Monitoring for infection due to immunosuppression.
  • Prevent bleeding related to thrombocytopenia.
  • Pain management and strict hygiene measures.

Treatment Options

• Include:
  • Chemotherapy
  • Surgery
  • Radiation therapy
  • Supportive care.

Education and Prognosis

• Provide education on:
  • Signs of infection and bleeding.
  • Medication compliance.
  • Preparation for treatment and its side effects.
  • Emphasizing normal development and play during treatment.
• Prognosis is generally favorable; early detection correlates with improved outcomes (over 90% survival rate).

Wilms Tumor

Definition

• A malignant embryonal tumor of the kidney resulting from immature renal cells that do not differentiate.

Signs and Symptoms

• Primary indicators include:
  • Painless abdominal mass (most prominent sign).
  • Abdominal swelling or asymmetry.
  • Hematuria (blood in urine).
  • Hypertension (high blood pressure).
  • Accompanying symptoms: anemia, fever, weight loss.

Diagnostics

• Procedures for diagnosis:
  • Abdominal ultrasound to identify the mass.
  • CT or MRI to stage the tumor.
  • Chest X-ray or CT to check for metastasis.
  • Urinalysis to detect hematuria.
  • Regular blood pressure monitoring due to hypertension.

Safety Considerations

• Critical guidance:
  • Do not palpate the abdomen to prevent tumor rupture.

Treatment Options

• Interventions include:
  • Nephrectomy (removal of the affected kidney).
  • Chemotherapy and radiation if the tumor is advanced.
  • Monitor intake/output and renal function.

Family Education

• Parents should be educated to:
  • Avoid palpating the abdomen.
  • Understand treatment plans and emphasize the need for follow-up care.