Pediatric Conditions Review: Definitions, Symptoms & Nursing

Pointers to Review - Complete Breakdown 1. Congenital Adrenal Hyperplasia Definition A group of inherited disorders affecting adrenal steroid biosynthesis, most commonly due to 21-hydroxylase deficiency. Signs and Symptoms - Ambiguous genitalia in females - Early puberty in males - Electrolyte im...

Pointers to Review - Complete Breakdown 1. Congenital Adrenal Hyperplasia Definition A group of inherited disorders affecting adrenal steroid biosynthesis, most commonly due to 21-hydroxylase deficiency. Signs and Symptoms - Ambiguous genitalia in females - Early puberty in males - Electrolyte imbalance - Dehydration - Hypoglycemia - Vomiting Etiology Autosomal recessive mutation in the CYP21A2 gene causing enzyme deficiency. Pathophysiology Deficiency in 21-hydroxylase impairs cortisol and aldosterone production, leading to increased ACTH and overproduction of androgens. Nursing Intervention - Monitor vital signs and electrolytes - Educate parents on hormone therapy - Support psychosocial needs - Administer medications as prescribed Management - Lifelong hormone replacement therapy - Surgical correction in some cases - Genetic counseling Drugs to Administer - Hydrocortisone - Fludrocortisone - Sodium supplements Case Scenario A newborn presents with dehydration and ambiguous genitalia. Lab tests show low cortisol and high ACTH levels. Diagnosed with CAH and started on hormone replacement therapy. 2. PKU (Phenylketonuria) Definition An autosomal recessive metabolic disorder in which the body cannot break down the amino acid phenylalanine. Signs and Symptoms - Intellectual disability - Seizures - Eczema - Musty body odor - Light skin and hair Etiology Mutation in PAH gene leading to deficiency of phenylalanine hydroxylase enzyme. Pathophysiology Without phenylalanine hydroxylase, phenylalanine accumulates in the blood and brain, causing neurotoxicity. Nursing Intervention - Educate caregivers about dietary restrictions - Monitor phenylalanine levels - Coordinate with dietitian - Support developmental needs Management - Lifelong phenylalanine-restricted diet - Regular monitoring - Use of phenylalanine-free formulas Drugs to Administer - Sapropterin (Kuvan) in BH4-responsive cases Case Scenario A 3-week-old infant is diagnosed with PKU after a positive newborn screen. Started on a low-phenylalanine formula and referred to metabolic specialist. 3. Down Syndrome Definition A genetic condition caused by trisomy of chromosome 21. Signs and Symptoms - Flattened facial features - Intellectual disability - Hypotonia - Congenital heart defects - Single palmar crease Etiology Trisomy 21 due to nondisjunction during meiosis. Pathophysiology Extra genetic material disrupts normal development, affecting physical and cognitive growth. Nursing Intervention - Promote developmental stimulation - Monitor for cardiac/thyroid issues - Support family with education and resources Management - Early intervention programs - Surgery for heart defects if needed - Multidisciplinary care Drugs to Administer Treatment as per associated conditions (e.g., thyroid hormone). Case Scenario Newborn with hypotonia, upslanted eyes, and AV canal defect. Karyotype confirms trisomy 21. Referred to pediatric cardiologist and early intervention services. 4. Neural Tube Defects Definition Birth defects of the brain, spine, or spinal cord that occur due to incomplete closure of the neural tube. Signs and Symptoms - Spina bifida: sac protruding from spine - Anencephaly: absent parts of the brain and skull - Neurological deficits - Hydrocephalus Etiology Folic acid deficiency during pregnancy, genetic factors, and maternal diabetes. Pathophysiology Improper closure of the neural tube during the third to fourth week of gestation leads to malformations. Nursing Intervention - Monitor for infection and neurological function - Educate on folic acid supplementation - Prepare for surgical repair Management - Surgical closure of defects - Ventriculoperitoneal shunt if hydrocephalus present - Supportive care and rehabilitation Drugs to Administer - Antibiotics for infection prevention - Anticholinergics (if neurogenic bladder) Case Scenario A newborn is born with a sac at the lower back. Diagnosed with spina bifida. Surgery scheduled and family educated on long-term care. 5. Thrombophlebitis Definition Inflammation of a vein caused by a blood clot. Signs and Symptoms - Pain and tenderness along the vein - Redness and warmth - Swelling - Palpable cord-like vein Etiology Immobility, varicose veins, trauma to the vein, and hypercoagulable states. Pathophysiology A thrombus forms in a vein, leading to inflammation and impaired blood flow. Nursing Intervention - Elevate affected limb - Apply warm compresses - Encourage ambulation - Monitor for DVT Management - Anticoagulant therapy - Compression stockings - Anti-inflammatory treatment Drugs to Administer - Heparin - Warfarin - NSAIDs Case Scenario A post-surgical patient complains of calf pain and swelling. Diagnosed with thrombophlebitis and started on anticoagulation therapy. 6. PIH (Pregnancy-Induced Hypertension) Definition Hypertension that develops as a result of pregnancy, typically after 20 weeks of gestation. Signs and Symptoms - Elevated blood pressure - Proteinuria (in preeclampsia) - Headache - Edema - Visual disturbances Etiology Unknown exact cause; involves placental factors, vascular dysfunction, and immune maladaptation. Pathophysiology Abnormal placental development leads to endothelial dysfunction and vasoconstriction, resulting in hypertension. Nursing Intervention - Monitor BP and fetal well-being - Educate on warning signs - Promote rest - Administer antihypertensives as ordered Management - Antihypertensive therapy - Magnesium sulfate for seizure prevention (if preeclampsia) - Possible early delivery if severe Drugs to Administer - Labetalol - Nifedipine - Methyldopa Case Scenario A pregnant woman at 32 weeks has BP 150/95 and mild proteinuria. Started on labetalol and scheduled for weekly monitoring. 7. Uterine Atony Definition Failure of the uterus to contract effectively after childbirth, leading to postpartum hemorrhage. Signs and Symptoms - Soft, boggy uterus - Excessive vaginal bleeding - Hypotension - Tachycardia Etiology Prolonged labor, overdistended uterus, retained placental fragments, multiple gestation. Pathophysiology Myometrial fibers fail to contract, preventing vessel constriction and causing continued bleeding. Nursing Intervention - Fundal massage - Monitor vitals and bleeding - Administer uterotonic agents - Ensure IV access Management - Uterotonics - Uterine massage - Surgical intervention if bleeding persists Drugs to Administer - Oxytocin - Misoprostol - Methylergonovine Case Scenario After delivery, the nurse notices excessive bleeding and a boggy uterus. Fundal massage and oxytocin are administered immediately. 8. Chronic Toxoplasmosis Definition A parasitic infection caused by Toxoplasma gondii, often chronic in immunocompromised individuals. Signs and Symptoms - Muscle pain - Fever - Headache - Vision changes (chorioretinitis) - Seizures (if CNS involvement) Etiology Ingestion of contaminated food/water, undercooked meat, or exposure to infected cat feces. Pathophysiology The parasite forms tissue cysts in organs like the brain and eyes, causing chronic inflammation. Nursing Intervention - Educate on hygiene and food safety - Monitor for neurological symptoms - Administer medications as ordered Management - Antiparasitic therapy - Steroids for inflammation - Supportive care Drugs to Administer - Pyrimethamine - Sulfadiazine - Leucovorin Case Scenario An HIV-positive patient presents with headaches and seizures. Imaging shows CNS lesions. Toxoplasmosis treatment initiated. 9. Cystic Fibrosis Definition A genetic disorder affecting the lungs and digestive system due to thick, sticky mucus production. Signs and Symptoms - Chronic cough - Recurrent lung infections - Poor weight gain - Greasy, bulky stools Etiology Mutations in the CFTR gene affecting chloride transport across cell membranes. Pathophysiology Defective chloride channels result in thick mucus that clogs airways and obstructs pancreatic ducts. Nursing Intervention - Airway clearance techniques - Monitor respiratory status - Provide nutritional support - Educate family Management - Chest physiotherapy - Enzyme supplements - High-calorie diet Drugs to Administer - Dornase alfa - Pancreatic enzymes - Antibiotics (inhaled or oral) Case Scenario A 10-year-old with chronic cough and weight loss is diagnosed with CF. Initiated chest PT and enzyme replacement therapy. 10. Turner's Syndrome Definition A chromosomal disorder affecting females, characterized by the absence of one X chromosome (45,X). Signs and Symptoms - Short stature - Webbed neck - Lymphedema - Delayed puberty - Infertility Etiology Monosomy X, a genetic abnormality where one of the X chromosomes is missing or partially missing. Pathophysiology Lack of a second X chromosome disrupts normal development, especially of reproductive organs. Nursing Intervention - Monitor growth and development - Emotional support - Hormonal therapy education Management - Growth hormone therapy - Estrogen replacement - Fertility counseling Drugs to Administer - Growth hormone - Estrogen therapy Case Scenario A 14-year-old girl presents with short stature and no signs of puberty. Karyotype confirms Turner's syndrome. Started on hormone therapy. 11. Marfan Syndrome Definition A genetic disorder affecting connective tissue, often involving the skeleton, heart, and eyes. Signs and Symptoms - Tall stature - Long limbs - Lens dislocation - Aortic aneurysm or dissection Etiology Mutation in the FBN1 gene affecting fibrillin-1, a protein essential for connective tissue. Pathophysiology Abnormal fibrillin weakens connective tissues, leading to cardiovascular and musculoskeletal issues. Nursing Intervention - Monitor cardiovascular status - Encourage regular eye exams - Educate on activity restrictions Management - Beta blockers - Regular echocardiograms - Surgical repair of aorta if needed Drugs to Administer - Beta blockers - Losartan Case Scenario A teen with aortic root dilation and lens dislocation is diagnosed with Marfan syndrome. Started on beta blockers and monitored for heart complications. 12. Uterine Rupture Definition A tear in the wall of the uterus, often during labor, which can be life-threatening. Signs and Symptoms - Sudden, severe abdominal pain - Vaginal bleeding - Cessation of uterine contractions - Fetal distress - Maternal hypotension Etiology Previous uterine surgery (e.g., cesarean), trauma, overdistended uterus, obstructed labor. Pathophysiology Increased intrauterine pressure or structural weakness causes the uterus to rupture, compromising maternal and fetal circulation. Nursing Intervention - Monitor for signs of rupture - Prepare for emergency surgery - Ensure IV access - Provide emotional support Management - Emergency cesarean section - Hysterectomy (if necessary) - Blood transfusion Drugs to Administer - IV fluids - Blood products - Oxytocin (post-repair for uterine tone) Case Scenario A laboring woman with a history of cesarean delivery experiences sudden abdominal pain and fetal bradycardia. Emergency surgery confirms uterine rupture. 13. Preeclampsia / Eclampsia Definition Preeclampsia is pregnancy-induced hypertension with proteinuria; eclampsia includes seizures. Signs and Symptoms - Hypertension - Proteinuria - Edema - Headache - Visual disturbances - Seizures (eclampsia) Etiology Unknown; linked to abnormal placental development and immune factors. Pathophysiology Endothelial dysfunction leads to vasospasm, hypertension, and organ damage. Eclampsia includes cerebral involvement causing seizures. Nursing Intervention - Monitor BP, urine output, and fetal status - Administer magnesium sulfate - Seizure precautions Management - Antihypertensives - Magnesium sulfate - Delivery of baby if condition worsens Drugs to Administer - Magnesium sulfate - Labetalol - Hydralazine Case Scenario A 36-week pregnant woman presents with BP 160/110, proteinuria, and headache. Seizure occurs—eclampsia managed with magnesium sulfate. 14. Umbilical Cord Prolapse Definition The umbilical cord slips ahead of the presenting part of the fetus, compromising blood flow. Signs and Symptoms - Visible/palpable cord - Sudden fetal bradycardia - Variable decelerations - Cord protruding from vagina Etiology Premature rupture of membranes, abnormal fetal lie, polyhydramnios. Pathophysiology Cord compression leads to interrupted oxygen supply to the fetus. Nursing Intervention - Elevate presenting part - Position mother to relieve pressure (knee-chest or Trendelenburg) - Call for emergency C-section Management - Emergency cesarean delivery - Oxygen administration - Manual elevation of presenting part Drugs to Administer - Tocolytics (if needed temporarily) - IV fluids Case Scenario During labor, fetal bradycardia is noted. Cord is found protruding. Emergency C- section is performed. 15. Spina Bifida Definition A neural tube defect where the spinal column does not close completely. Signs and Symptoms - Protruding sac on back - Paralysis below defect - Bowel/bladder dysfunction - Hydrocephalus Etiology Folic acid deficiency, genetic factors, maternal diabetes. Pathophysiology Incomplete closure of the neural tube leads to spinal cord protrusion and neurological impairment. Nursing Intervention - Protect sac with sterile dressing - Monitor for infection - Supportive care - Educate parents Management - Surgical repair - VP shunt for hydrocephalus - Physical therapy Drugs to Administer - Antibiotics (post-surgery) - Anticholinergics (bladder control) Case Scenario Newborn presents with lumbar sac. Diagnosed with spina bifida. Undergoes surgery and begins physical therapy. 16. Respiratory Distress Syndrome (RDS) Definition A condition in premature infants due to surfactant deficiency causing breathing difficulty. Signs and Symptoms - Grunting - Nasal flaring - Retractions - Cyanosis - Tachypnea Etiology Prematurity, maternal diabetes, C-section without labor. Pathophysiology Lack of surfactant causes alveolar collapse, leading to impaired gas exchange and hypoxia. Nursing Intervention - Monitor respiratory status - Provide oxygen support - Prepare for mechanical ventilation Management - Surfactant replacement - CPAP or ventilator - Supportive care Drugs to Administer - Exogenous surfactant - Oxygen - Antibiotics (if infection suspected) Case Scenario Preterm infant shows signs of RDS. Placed on CPAP and given surfactant via endotracheal tube. 17. Neonatal Hypoglycemia Definition Low blood glucose levels in newborns, typically 400 and acidosis. Admitted for DKA and started on insulin drip. 35. Tachypnea, Bradycardia, Tachycardia Definition Abnormal vital signs: rapid breathing (tachypnea), slow heart rate (bradycardia), fast heart rate (tachycardia). Signs and Symptoms - Vary by cause: SOB, dizziness, syncope, chest pain, palpitations Etiology Respiratory distress, fever, dehydration, hypoxia, heart block, anxiety, etc. Pathophysiology Disruption in normal autonomic regulation or heart function leads to abnormal rates or rhythms. Nursing Intervention - Monitor vitals and oxygenation - Identify and treat cause - Provide supportive care Management - Oxygen for hypoxia - IV fluids - Antipyretics or antiarrhythmics depending on cause Drugs to Administer - Atropine (for bradycardia) - Beta blockers (for tachycardia) - Antipyretics Case Scenario Child with dehydration has tachycardia and tachypnea. Given IV fluids and antipyretics with improvement. 36. Anorexia Definition Loss of appetite or an eating disorder (anorexia nervosa) characterized by restricted food intake and weight loss. Signs and Symptoms - Weight loss - Fatigue - Amenorrhea - Body image distortion - Bradycardia Etiology Psychological factors, social pressure, anxiety, depression. Pathophysiology Starvation leads to hormonal changes, electrolyte imbalance, and organ dysfunction. Nursing Intervention - Monitor weight and vitals - Support nutrition - Encourage psychological support - Monitor labs Management - Nutritional rehab - Psychotherapy (CBT) - Inpatient care if severe Drugs to Administer - SSRIs (if comorbid depression) - Supplements (e.g., multivitamins) Case Scenario Teen girl with BMI of 15 and amenorrhea diagnosed with anorexia nervosa. Admitted for nutritional and psych support. 37. DAPT (Dual Antiplatelet Therapy) Definition Use of two antiplatelet medications to prevent clot formation, typically after stent placement. Signs and Symptoms - N/A (preventative use) - May increase risk of bleeding Etiology Used post-MI, PCI with stenting, or ACS to prevent thrombosis. Pathophysiology Inhibits platelet aggregation by two mechanisms—aspirin (COX-1 inhibition) and P2Y12 inhibitors (e.g., clopidogrel). Nursing Intervention - Monitor for bleeding - Educate on adherence - Watch for GI upset Management - Continue for prescribed duration (usually 6–12 months) - Balance bleeding vs thrombosis risk Drugs to Administer - Aspirin - Clopidogrel or ticagrelor Case Scenario Middle-aged man post-stent started on aspirin and clopidogrel. Educated about bleeding signs and med schedule. 38. Cyanosis Definition Bluish discoloration of the skin due to decreased oxygen saturation in the blood. Signs and Symptoms - Blue lips, nails - SOB - Fatigue - Cold extremities Etiology Congenital heart defects, respiratory failure, severe anemia, hypothermia. Pathophysiology Reduced oxygen in blood leads to deoxygenated hemoglobin accumulating, causing bluish color. Nursing Intervention - Assess oxygenation - Provide supplemental oxygen - Monitor vitals - Educate on triggers Management - Oxygen therapy - Treat underlying cause - Mechanical ventilation (if needed) Drugs to Administer - Bronchodilators - Diuretics (in heart failure) - Prostaglandins (in neonates with ductal-dependent defects) Case Scenario Newborn with cyanosis unresponsive to oxygen diagnosed with congenital heart disease. Given prostaglandin E1.