NLE Paediatric Nursing — Paediatric Hematologic, Oncologic & Genetic DisordersDetailed Explanation

Leukemia is the MOST COMMON childhood cancer. Acute Lymphoblastic Leukemia (ALL) is the most common type, with peak incidence at 2–5 years of age and a generally favorable prognosis with modern chemotherapy. Think of the bone marrow as a factory for blood cells. In leukemia, immature white blood cells (called blasts) multiply uncontrollably and crowd the factory, preventing it from producing enough normal red blood cells (RBCs), functioning white blood cells (WBCs), and platelets. This crowding effect is called PANCYTOPENIA — the simultaneous drop of all three cell lines — and it explains the classic triad of consequences:

1. LOW RBCs (Anemia) → pallor, fatigue, weakness
2. LOW functional WBCs (Neutropenia) → HIGH infection risk → INFECTION IS THE LEADING CAUSE OF DEATH IN LEUKEMIA
3. LOW Platelets (Thrombocytopenia) → bleeding, petechiae (tiny red-purple dots on skin), easy bruising

Additional signs include bone/joint pain (blasts infiltrate the periosteum), hepatosplenomegaly (liver and spleen enlargement from blast accumulation), lymphadenopathy (swollen lymph nodes), and fever.

DIAGNOSIS is confirmed by BONE MARROW ASPIRATION (the gold standard), not a simple blood test.

PRIORITY NURSING CARE centers on two major protective functions:

A) NEUTROPENIC PRECAUTIONS (Infection Prevention — always Priority #1):

• Meticulous hand hygiene (most effective single intervention)
• Private room with positive pressure or filtered air
• NO fresh flowers or potted plants (harbor mold/bacteria)
• NO raw or uncooked foods (sushi, salads, undercooked eggs — bacteria risk)
• Limit visitors; NO sick visitors or children who recently received live vaccines
• Monitor temperature EVERY 4 hours — FEVER (≥38°C/100.4°F) is often the ONLY sign of infection in a neutropenic child and must be treated as a MEDICAL EMERGENCY
• AVOID rectal temperatures, rectal suppositories, and IM injections (break skin integrity → infection entry point)
• Absolute Neutrophil Count (ANC) < 500 = severe neutropenia → strictest precautions

B) BLEEDING PRECAUTIONS (Thrombocytopenia Management):

• Soft-bristled toothbrush, no flossing if platelets are very low
• Avoid contact/collision sports
• NO aspirin or NSAIDs (impair platelet aggregation)
• Monitor platelet count; platelet transfusion if critically low
• Apply prolonged pressure to any puncture site

CHEMOTHERAPY SIDE EFFECTS AND NURSING MANAGEMENT:

• Nausea/Vomiting: Administer antiemetics (ondansetron/Zofran) BEFORE chemotherapy; small, frequent, bland meals
• Mucositis (mouth sores): Normal saline rinses, soft bland non-acidic foods, NO commercial alcohol-based mouthwash; assess for oral candidiasis (white patches)
• Alopecia (hair loss): Reassure child and family that hair REGROWS after therapy; protect the scalp
• Vincristine side effects: Peripheral neuropathy, constipation — monitor bowel habits
• Steroids: Increased appetite, mood changes, moon face — prepare family
• LIVE VACCINES are CONTRAINDICATED during immunosuppressive chemotherapy (child cannot mount immune response and live vaccines could cause disease)

Hemophilia is an X-LINKED RECESSIVE bleeding disorder caused by a deficiency in a specific clotting factor. Because it is X-linked recessive, the pattern is: FEMALES CARRY the gene (carrier mothers, XX), MALES are AFFECTED (XY — they have only one X chromosome, so the defective gene is fully expressed). A carrier mother has a 50% chance of passing the gene to sons (who will have hemophilia) and a 50% chance of passing it to daughters (who become carriers).

There are two main types:

• HEMOPHILIA A — FACTOR VIII (8) DEFICIENCY: the most common type (~80–85% of all hemophilia cases). Remember: A = Eight (Factor vIII = hemophilIA type A)
• HEMOPHILIA B ('Christmas disease') — FACTOR IX (9) DEFICIENCY: less common

HOW CLOTTING WORKS: When a blood vessel is injured, platelets form a temporary plug (primary hemostasis — this is NORMAL in hemophilia). Then clotting factors (like VIII and IX) activate the coagulation cascade to form a stable fibrin clot (secondary hemostasis — THIS IS DEFECTIVE in hemophilia). This is why the PLATELET COUNT and BLEEDING TIME are NORMAL, but the PARTIAL THROMBOPLASTIN TIME (PTT) is PROLONGED.

CLINICAL MANIFESTATIONS:

• HEMARTHROSIS (bleeding into joints) — the hallmark and most distinctive sign. The knees, elbows, and ankles are most commonly affected. The joint becomes painful, swollen, warm, and the child refuses to move it. Repeated hemarthrosis leads to joint damage and chronic arthropathy.
• Easy bruising and prolonged bleeding after minor injuries or procedures
• Prolonged bleeding after circumcision (may be the first sign in male newborns)
• Intracranial hemorrhage — the most dangerous, potentially fatal complication

LABORATORY FINDINGS:

• PTT (aPTT) = PROLONGED (the intrinsic pathway is defective)
• PT (Prothrombin Time) = NORMAL
• Platelet count = NORMAL
• Bleeding time = NORMAL

MANAGEMENT:

• PRIMARY: REPLACE THE MISSING CLOTTING FACTOR — Factor VIII concentrate (for hemophilia A) or Factor IX concentrate (for hemophilia B) given IV
• DDAVP (Desmopressin/Stimate nasal spray): Used in MILD Hemophilia A to stimulate release of stored Factor VIII from endothelial cells — NOT effective in severe hemophilia or hemophilia B

• ACUTE JOINT BLEED MANAGEMENT — remember RICE:

  • REST the joint immediately (stop activity)
  • ICE packs to the joint (reduces swelling and pain) — WRAP ice in cloth; do not apply ice directly
  • COMPRESSION bandage
  • ELEVATION of the affected limb

  THEN administer factor replacement as ordered

FAMILY TEACHING AND HOME SAFETY:

• AVOID ASPIRIN and NSAIDs (ibuprofen, mefenamic acid) — they inhibit platelet aggregation and worsen bleeding. Acetaminophen (paracetamol) is SAFE for pain.
• AVOID IM INJECTIONS — use subcutaneous or oral routes when possible; if IM is unavoidable, apply prolonged pressure (5–10 minutes) after
• AVOID contact/collision sports (basketball, boxing, football, wrestling). ENCOURAGE non-contact activities: SWIMMING, CYCLING, GOLF
• SOFT TOOTHBRUSH and gentle flossing
• Provide a SAFE HOME ENVIRONMENT: pad sharp corners on furniture, use helmets and protective gear for physical activities
• WEAR MEDICAL-ALERT IDENTIFICATION (bracelet/necklace/tag) at all times
• Apply prolonged DIRECT PRESSURE to bleeding wounds
• Parents and the child (when old enough) should be taught to self-administer factor concentrates at home (home infusion therapy)
• GENETIC COUNSELING: Carrier mothers should understand the 50% risk of each son having hemophilia and each daughter being a carrier

Sickle Cell Disease (SCD) is an AUTOSOMAL RECESSIVE inherited disorder. Both parents must carry the sickle cell trait (heterozygous, HbAS) for a child to have the disease (homozygous, HbSS). With each pregnancy, such parents have a 25% chance of having an affected child. SCD is more prevalent in people of African, Mediterranean, Middle Eastern, and South Asian descent.

PATHOPHYSIOLOGY: Normal hemoglobin (HbA) carries oxygen efficiently in a smooth, round, biconcave disc-shaped RBC. In SCD, a genetic mutation produces abnormal HEMOGLOBIN S (HbS). Under conditions of LOW OXYGEN TENSION (hypoxia), DEHYDRATION, COLD TEMPERATURE, ACIDOSIS, or INFECTION, HbS polymerizes and distorts the RBC into a SICKLE (crescent) shape. These sickled cells are:

1. RIGID and STICKY — they clog small blood vessels (vaso-occlusion) → ischemia and pain
2. FRAGILE — they break down quickly → chronic hemolytic ANEMIA
3. Sickled cells eventually block blood supply to organs → organ damage (spleen, kidneys, brain, eyes, bones)

CRISIS TYPES:

• VASO-OCCLUSIVE (PAINFUL) CRISIS — the MOST COMMON type. Sickled cells block blood flow → severe ischemic pain in the extremities, abdomen, back, and chest. DACTYLITIS (swelling and pain of hands/feet from vascular occlusion) is the classic presentation in infants.
• SEQUESTRATION CRISIS — massive trapping of blood in the SPLEEN → sudden splenomegaly, severe anemia, hypovolemic SHOCK → life-threatening. Common in young children (before repeated infarction destroys the spleen).
• APLASTIC CRISIS — triggered by parvovirus B19 infection → bone marrow temporarily stops producing RBCs → severe anemia
• ACUTE CHEST SYNDROME — sickling in lung vessels → chest pain, fever, respiratory distress — similar to pneumonia, life-threatening

PRIORITY MANAGEMENT OF VASO-OCCLUSIVE CRISIS — remember 'HHOP':

• H — HYDRATION: IV fluids or increased oral fluid intake to reverse dehydration, decrease blood viscosity, and un-sickle RBCs. FLUIDS ARE THE FOUNDATION OF CRISIS MANAGEMENT.
• H — HEAT/WARMTH: Apply warm compresses to painful areas. NEVER apply cold — cold causes VASOCONSTRICTION which WORSENS sickling and pain.
• O — OXYGEN: Administer oxygen to correct hypoxia and reduce further sickling
• P — PAIN CONTROL: Opioid analgesics (morphine, opioids) for moderate to severe pain; do not withhold — pain is REAL and severe (these patients are often undertreated for pain)
• REST: Reduce activity to decrease oxygen demand
• TREAT INFECTION: If infection triggered the crisis, treat with antibiotics

LONG-TERM MANAGEMENT:

• HYDROXYUREA: An oral medication that increases FETAL HEMOGLOBIN (HbF) production. HbF does not sickle, so higher HbF levels reduce crisis frequency and severity. This is the most important disease-modifying therapy.
• PENICILLIN PROPHYLAXIS: Children with SCD have FUNCTIONAL ASPLENIA (repeated infarction destroys the spleen → the child cannot fight encapsulated bacteria). Give prophylactic penicillin from 2 months to at least 5 years of age.
• Pneumococcal, Meningococcal, and Haemophilus influenzae vaccines are ESPECIALLY IMPORTANT because of functional asplenia.
• Folic acid supplementation (supports RBC production)
• Blood transfusions for severe anemia or stroke prevention
• Bone marrow transplant is potentially curative

FAMILY TEACHING — PREVENT CRISES:

• STAY WELL HYDRATED at all times — carry water, especially in hot weather (Philippine climate is a consideration)
• AVOID HIGH ALTITUDE (lower oxygen tension triggers sickling)
• AVOID COLD EXPOSURE — no cold baths, air-conditioning at very low temperature, cold water
• AVOID STRENUOUS EXERTION — increases oxygen demand
• SEEK CARE EARLY for any FEVER (functional asplenia = high infection risk)
• Stay current on all IMMUNIZATIONS
• Recognize signs of crisis and when to go to the hospital

Thalassemia is an AUTOSOMAL RECESSIVE inherited disorder affecting the SYNTHESIS of the globin chains of hemoglobin. In BETA-THALASSEMIA MAJOR (also called Cooley's Anemia), the beta-globin chains are severely reduced or absent. Without enough beta chains, normal adult hemoglobin (HbA) cannot be formed in adequate amounts. The result is:

1. SEVERE MICROCYTIC, HYPOCHROMIC ANEMIA: RBCs are small (microcytic) and pale (hypochromic) due to insufficient hemoglobin content. Symptoms begin in infancy (3–6 months after birth, when fetal hemoglobin begins to decline).

2. EXTRAMEDULLARY HEMATOPOIESIS: The body tries to compensate by making blood cells outside the marrow — in the liver, spleen, and bones. This causes:

   • HEPATOSPLENOMEGALY (massively enlarged liver and spleen)
   • BONE MARROW EXPANSION → characteristic skull and facial changes: FRONTAL BOSSING (prominent forehead), maxillary hypertrophy (protruding upper jaw), and 'chipmunk face' appearance
3. GROWTH RETARDATION and developmental delays

MANAGEMENT — the cornerstone of treatment is:

A) REGULAR BLOOD TRANSFUSIONS: To maintain hemoglobin levels ≥9–10 g/dL and suppress the child's abnormal erythropoiesis. Transfusions are given every 3–4 weeks. This is life-sustaining but creates a major complication.

B) IRON OVERLOAD (HEMOSIDEROSIS/HEMOCHROMATOSIS): Each unit of blood contains about 200–250 mg of iron. The human body has NO physiologic mechanism to excrete excess iron. Over time (after years of transfusions), iron deposits accumulate in:

• HEART → cardiomyopathy, arrhythmias, heart failure (leading cause of death)
• LIVER → cirrhosis
• ENDOCRINE GLANDS → diabetes mellitus, hypothyroidism, delayed/absent puberty, growth hormone deficiency
• Skin → bronze/tan skin discoloration

C) CHELATION THERAPY — the ONLY way to remove excess iron from the body:

• DEFEROXAMINE (Desferal): Parenteral (IV/subcutaneous infusion, often given overnight via an infusion pump for 8–12 hours/night, 5–7 nights per week). Very effective but burdensome for the child and family.
• DEFERASIROX (Exjade): ORAL chelation — newer, more convenient, taken once daily. Monitors renal function.

The nurse must teach the family the importance of chelation compliance — non-compliance leads to cardiac death from iron overload.

D) BONE MARROW / STEM CELL TRANSPLANTATION — potentially CURATIVE but limited by donor availability and cost

E) SPLENECTOMY: If splenomegaly is massive and causing hypersplenism (destroying transfused RBCs too rapidly), the spleen may be surgically removed. Post-splenectomy → increased infection risk (like sickle cell functional asplenia) → prophylactic penicillin and vaccines.

NURSING MANAGEMENT:

• Pre-transfusion: Check blood type, cross-match; ensure informed consent; two-nurse verification of blood product
• Monitor for transfusion reactions (fever, chills, urticaria, hemolysis)
• Monitor SERUM FERRITIN levels (indicator of iron stores — goal is to keep ferritin < 1000 mcg/L)
• Promote growth and development: nutritional support, psychological support for body image (frontal bossing, bronze skin)
• Teach chelation therapy administration at home
• Administer folic acid supplementation (supports RBC production)
• GENETIC COUNSELING for parents (both are carriers — 25% risk per pregnancy)

Iron-Deficiency Anemia (IDA) is the MOST COMMON nutritional anemia in children worldwide and in the Philippines. The Philippine DOH has long recognized IDA as a significant public health concern, with prevalence especially high among infants, toddlers, and adolescent girls.

PEAK RISK PERIODS:

1. INFANTS AND TODDLERS (6–24 months): Rapid growth increases iron demand; iron stores from birth are depleted by ~6 months; exclusive breastfeeding (low but bioavailable iron) becomes insufficient if complementary foods are not iron-rich; EXCESSIVE COW'S MILK INTAKE (more than 24 oz/day) displaces iron-rich foods AND is low in iron AND may cause occult GI blood loss → the classic 'milk baby'
2. ADOLESCENT GIRLS: Rapid growth + onset of menstruation → increased iron demand and losses

PATHOPHYSIOLOGY: Iron is essential for hemoglobin synthesis. When iron stores are depleted, hemoglobin synthesis drops → small (microcytic) and pale (hypochromic) RBCs with low hemoglobin content → reduced oxygen-carrying capacity.

CLINICAL MANIFESTATIONS:

• PALLOR (most visible in conjunctivae, palms, nail beds, and oral mucosa)
• Fatigue and IRRITABILITY (often mistaken for behavioral problems in toddlers)
• Poor feeding and failure to thrive (in infants)
• Pica (craving for non-food substances like ice, clay, dirt, paper — called pagophagia when specifically ice)
• Koilonychia (spoon-shaped nails) — in chronic severe IDA
• Developmental delays (iron is critical for brain myelination)
• Tachycardia (compensatory)

LABORATORY FINDINGS:

• Low hemoglobin and hematocrit
• MICROCYTIC (low MCV) and HYPOCHROMIC (low MCHC) red cells
• LOW SERUM FERRITIN (earliest indicator of iron depletion)
• Low serum iron, elevated TIBC (total iron-binding capacity)

MANAGEMENT:

A) ORAL IRON SUPPLEMENTATION — FERROUS SULFATE:

• Dose: ~3–6 mg/kg/day of ELEMENTAL IRON in divided doses (2–3 times daily)
• Duration: Until hemoglobin normalizes PLUS 2–3 additional months to replenish iron stores

B) ADMINISTRATION TEACHING — the most tested area in NLE:

1. Give BETWEEN MEALS / ON AN EMPTY STOMACH: Iron absorption is greatest when taken without food (especially without dairy or cereals). If GI upset occurs, give with a small amount of food (but NOT milk).
2. Give WITH VITAMIN C (ascorbic acid/citrus juice/orange juice): Vitamin C converts ferric iron (Fe³⁺) to ferrous iron (Fe²⁺), the more absorbable form. BEST: mix liquid iron with orange juice or calamansi juice.
3. AVOID giving with MILK, antacids, tetracyclines, or high-fiber foods: These impair iron absorption.
4. LIQUID IRON STAINS TEETH: Use a DROPPER or STRAW to deliver liquid iron toward the BACK OF THE MOUTH; rinse the mouth or brush teeth afterward.
5. EXPECT DARK/TARRY-BLACK STOOLS: This is NORMAL and expected — caused by unabsorbed iron oxidizing in the GI tract. Reassure parents.
6. May cause CONSTIPATION: Increase dietary fiber and fluid intake; docusate sodium if needed.
7. CRITICAL SAFETY: Keep iron supplements LOCKED AWAY from children. IRON OVERDOSE IS ONE OF THE LEADING CAUSES OF ACCIDENTAL POISONING DEATH IN YOUNG CHILDREN. Symptoms: vomiting, hematemesis, bloody diarrhea, metabolic acidosis, shock, coma.

C) DIETARY COUNSELING:

• IRON-RICH FOODS: Lean red meat (beef, pork, liver), poultry, fish, shellfish, dark leafy vegetables (malunggay/moringa, kangkong), legumes (mongo/mung beans), iron-fortified cereals
• Limit cow's milk to ≤24 oz/day in toddlers; DO NOT introduce whole cow's milk before 12 months of age
• Philippine DOH programs: micronutrient supplementation (iron drops for infants 6–12 months; ferrous sulfate for children and pregnant mothers)

D) PHILIPPINE CONTEXT (RA 9173 — Community/Public Health Nursing Function):

• The Philippine DOH Iron Supplementation Program provides iron supplements to target vulnerable groups (infants, children under 5, pregnant/lactating women, adolescent girls) through RHUs and BHCs
• The Barangay Nutrition Scholar (BNS) conducts growth monitoring and refers children with pallor and failure to thrive for evaluation
• School nurses monitor for pallor and fatigue in school-aged children

Down syndrome is the MOST COMMON chromosomal disorder causing intellectual disability. It results from having THREE copies of chromosome 21 (Trisomy 21) instead of the normal two. The extra chromosome causes the characteristic features and associated health problems.

CAUSES / RISK FACTOR:

• The most well-established risk factor is ADVANCED MATERNAL AGE (≥35 years). The risk increases from approximately 1 in 1,000 births at age 30 to 1 in 400 at age 35 to 1 in 100 at age 40.
• Most cases are due to nondisjunction during meiosis (chromosomes fail to separate properly).

CHARACTERISTIC PHYSICAL FEATURES (think 'Trisomy 21 checklist' for NLE):

• HYPOTONIA (decreased muscle tone) — the 'floppy infant,' often the FIRST observation at birth
• UPWARD-SLANTING PALPEBRAL FISSURES (eyes slant upward at the outer corners)
• EPICANTHAL FOLDS (skin folds at the inner corners of the eyes)
• FLAT FACIAL PROFILE and FLAT NASAL BRIDGE
• PROTRUDING TONGUE — the oral cavity is small and the tongue appears large, causing constant protrusion; this creates feeding difficulties and contributes to speech problems
• Short neck with excess posterior neck skin
• SINGLE TRANSVERSE PALMAR CREASE ('SIMIAN CREASE') — instead of the two normal creases across the palm, there is ONE single crease
• Short stature, short hands and feet
• Wide gap between the FIRST and SECOND TOES ('sandal gap')
• Small, low-set ears

ASSOCIATED CONDITIONS (VERY HIGH-YIELD FOR NLE):

1. CONGENITAL HEART DEFECTS (40–50% of children with Down syndrome!) — the MOST COMMON and MOST SERIOUS associated condition. The most typical defect is ATRIOVENTRICULAR (AV) CANAL DEFECT (also called endocardial cushion defect). Also: ventricular septal defect (VSD), atrial septal defect (ASD). Perform cardiac evaluation (echocardiogram) in ALL children with Down syndrome.
2. GI ANOMALIES: DUODENAL ATRESIA (classic 'double bubble' sign on X-ray — the most common GI defect), Hirschsprung disease (absence of ganglia in the colon → constipation, obstruction)
3. HYPOTHYROIDISM: Annual thyroid function tests are recommended
4. ATLANTOAXIAL INSTABILITY: The C1–C2 vertebral joint is unstable in ~15% of children with Down syndrome → risk of spinal cord injury with neck flexion or contact sports → CAUTION with activities involving the neck (gymnastics, trampolines, contact sports, certain surgical positioning)
5. HEARING LOSS (otitis media-related conductive hearing loss is very common) and VISION PROBLEMS (strabismus, refractive errors, cataracts)
6. INCREASED RISK OF LEUKEMIA (especially ALL and AML)
7. INCREASED SUSCEPTIBILITY TO RESPIRATORY INFECTIONS (due to hypotonia affecting respiratory muscles and immune function differences)
8. Alzheimer's disease develops earlier in adults with Down syndrome

NURSING MANAGEMENT:

A) FEEDING SUPPORT (Priority in Newborn/Infant Period):

• Hypotonia and the protruding tongue make sucking and swallowing difficult
• Support the HEAD firmly; position upright during feeding to prevent aspiration
• Feed SLOWLY; use modified nipples or special feeding techniques
• Monitor for coughing, choking, aspiration — signs of feeding difficulty
• Refer to occupational therapist or speech therapist for feeding assessment

B) DEVELOPMENTAL PROMOTION:

• EARLY INTERVENTION PROGRAMS (EIP): Physical therapy (for hypotonia and motor milestones), occupational therapy (fine motor, feeding), speech therapy (for language and the protruding tongue)
• Enroll in early childhood stimulation programs
• Set realistic but encouraging developmental goals — children with Down syndrome CAN learn and achieve significantly with support
• Use DOWN SYNDROME-SPECIFIC GROWTH CHARTS (children grow differently from typical children)

C) HEALTH MONITORING:

• Echocardiogram at birth/early infancy (congenital heart defect screening)
• Thyroid function tests (TSH) annually
• Audiologic evaluation every 6 months until 3 years, then annually
• Ophthalmologic evaluation
• X-ray of the cervical spine (atlantoaxial instability screening) before contact sports or surgery
• Monitor for constipation (possible Hirschsprung disease)

D) FAMILY SUPPORT AND EDUCATION:

• Parents need immediate and compassionate communication of the diagnosis
• GENETIC COUNSELING: Explain risk for future pregnancies; most cases are non-hereditary (sporadic nondisjunction)
• Connect with Down Syndrome Association of the Philippines (DSAP) and support groups
• Teach parents normal milestones for children with Down syndrome and how to promote learning at home
• Address STIGMA — in Filipino culture, family and community support is strong, but societal stigma around disability may be present; the nurse advocates for the child's rights and inclusion

ITP is an ACQUIRED AUTOIMMUNE disorder in which the body produces antibodies against its OWN PLATELETS, causing accelerated platelet destruction. Unlike leukemia (where all three cell lines are affected), ITP causes ISOLATED THROMBOCYTOPENIA — only the platelet count is low; WBC and hemoglobin are NORMAL. This is a key clinical and exam differentiator.

PATHOPHYSIOLOGY: An immune response (often triggered by a recent viral illness 2–6 weeks prior) generates antibodies (IgG) that coat platelets. The spleen recognizes these antibody-coated platelets as foreign and destroys them. The result is a sudden drop in platelet count (often below 20,000/mm³) with normal bone marrow production.

CLINICAL PRESENTATION:

• Typically a previously HEALTHY CHILD (distinguishes from leukemia where the child is chronically unwell)
• Recent history of VIRAL ILLNESS (URTIs, viral exanthems like chickenpox) 2–6 weeks before onset
• Sudden onset of: PETECHIAE (pinpoint non-blanching red-purple dots), PURPURA (larger red-purple patches), EASY BRUISING
• Nosebleeds (epistaxis) and gum bleeding may occur
• The child otherwise appears WELL (no hepatosplenomegaly, no lymphadenopathy, no pallor or fatigue — this is the key distinction from leukemia)

DIAGNOSIS:

• Low platelet count (often < 20,000/mm³)
• NORMAL WBC and hemoglobin
• No blasts on peripheral smear
• Positive platelet antibody test

MANAGEMENT:

• ITP is often SELF-LIMITING — 80% of children recover spontaneously within 6 months without treatment

• For significant bleeding or very low platelet counts:

  • CORTICOSTEROIDS (prednisone): First-line treatment — suppress the immune response
  • INTRAVENOUS IMMUNOGLOBULIN (IVIG): Rapid platelet count increase — used when rapid response is needed (before surgery, active serious bleeding)
  • ANTI-D IMMUNOGLOBULIN (WinRho): For Rh-positive patients — reduces antibody-mediated platelet destruction
  • SPLENECTOMY: For chronic refractory ITP not responding to medical therapy (≥12 months)
• PLATELET TRANSFUSION: Generally NOT effective (transfused platelets are destroyed as quickly as the child's own) unless there is life-threatening hemorrhage

NURSING MANAGEMENT:

• BLEEDING PRECAUTIONS:

  • No contact/collision sports or rough play
  • Soft toothbrush and gentle flossing
  • NO aspirin or NSAIDs
  • No IM injections
  • Padded crib rails to prevent bruising
  • Teach parents signs of serious bleeding: intracranial hemorrhage (sudden severe headache, vomiting, altered consciousness → EMERGENCY)
• Provide EMOTIONAL SUPPORT: ITP can be frightening for parents when they see widespread bruising and petechiae
• Monitor platelet counts regularly
• For mild cases, activity may be limited to reduce bleeding risk while awaiting spontaneous recovery

PHENYLKETONURIA (PKU) is an AUTOSOMAL RECESSIVE inborn error of metabolism. The enzyme PHENYLALANINE HYDROXYLASE (PAH) is absent or deficient, so the amino acid PHENYLALANINE (Phe) — found in all protein-containing foods — CANNOT be converted to tyrosine. Instead, phenylalanine accumulates in the blood and brain, causing:

• INTELLECTUAL DISABILITY (the most serious consequence — caused by phenylalanine's toxic effect on developing myelin)
• Seizures
• Hypopigmentation (fair skin and hair — because tyrosine is needed for melanin synthesis)
• Musty/mousy urine odor (from phenylketone metabolites)

PKU is CLINICALLY NORMAL at birth — damage accumulates over weeks/months if untreated. Early detection by NEWBORN SCREENING is critical.

NEWBORN SCREENING — THE HEEL-PRICK TEST:

• TIMING: BEST done 24–72 HOURS after birth AND after the newborn has had protein feedings (at least 24 hours of breastfeeding or formula). Phenylalanine must be present in the blood for the test to detect elevated levels. Testing too early (before feeding) may give a FALSE NEGATIVE.
• Method: A few drops of blood from a heel prick are placed on a filter paper card (Guthrie card) and sent to a newborn screening laboratory.
• In the Philippines, RA 9288 (NEWBORN SCREENING ACT OF 2004) mandates newborn screening for every Filipino newborn.

PHILIPPINE NEWBORN SCREENING PANEL (RA 9288) — Six core disorders:

1. CONGENITAL HYPOTHYROIDISM (CH): Low thyroid hormone → cretinism (intellectual disability, growth retardation) if untreated. Treatment: Lifelong levothyroxine.
2. CONGENITAL ADRENAL HYPERPLASIA (CAH): Cortisol deficiency, androgen excess → ambiguous genitalia, salt-wasting crisis. Treatment: corticosteroids.
3. PHENYLKETONURIA (PKU): As above. Treatment: Low-phenylalanine diet.
4. GALACTOSEMIA: Cannot metabolize galactose (from lactose in milk) → liver damage, intellectual disability, cataracts. Treatment: Galactose-free diet (no breastfeeding — breast milk contains lactose).
5. G6PD DEFICIENCY (Glucose-6-Phosphate Dehydrogenase Deficiency): X-linked recessive; RBCs cannot handle oxidative stress → HEMOLYTIC ANEMIA triggered by oxidative agents.
6. MAPLE SYRUP URINE DISEASE (MSUD): Cannot metabolize branched-chain amino acids → sweet urine odor, neurological damage.

PKU MANAGEMENT:

• LIFELONG LOW-PHENYLALANINE DIET: Restrict all HIGH-PROTEIN foods (meat, fish, poultry, eggs, dairy, nuts, legumes) — all contain phenylalanine
• Use SPECIAL PHE-FREE FORMULA (Lofenalac or similar) as the main protein source
• AVOID ASPARTAME (NutraSweet, Equal) — the artificial sweetener is made of aspartame, which contains phenylalanine. This is found in diet sodas, some candies, and sugar-free products. The product MUST have a warning label: 'PHENYLKETONURICS: CONTAINS PHENYLALANINE.'
• Tyrosine supplementation (since tyrosine cannot be synthesized)
• Regular monitoring of blood phenylalanine levels
• Diet can be slightly liberalized in adulthood but some restriction usually continues lifelong
• For PREGNANT WOMEN WITH PKU: Strict phenylalanine control is critical during pregnancy to prevent maternal PKU syndrome (the excess phenylalanine crosses the placenta and causes fetal intellectual disability and heart defects)

G6PD DEFICIENCY (ADDITIONAL HIGH-YIELD POINTS):

• X-linked recessive: more common in MALES; females are carriers
• The enzyme G6PD protects RBCs from oxidative stress
• When exposed to OXIDATIVE TRIGGERS, RBCs are destroyed → hemolytic anemia (jaundice, pallor, dark urine)

• OXIDATIVE TRIGGERS TO AVOID:

  • FAVA BEANS (favism — the classic trigger; 'Parang isda' in some Filipino dialects, 'broad beans')
  • NAPHTHALENE MOTHBALLS (common in Filipino households — a very important Philippine public health point)
  • DRUGS: Sulfonamides (trimethoprim-sulfamethoxazole/Cotrimoxazole, sulfur drugs), Antimalarials (primaquine, chloroquine), Nitrofurantoin, Aspirin in large doses, Dapsone
  • Infections (may precipitate hemolysis)
• Nursing teaching: Read ALL medication labels and food labels; inform ALL healthcare providers of G6PD deficiency; carry a list of trigger drugs

Understanding the patterns of inheritance is essential for NLE questions about genetic counseling, recurrence risk, and which family members are at risk. The nurse's role in genetic counseling under RA 9173 is to explain risks in simple terms, support informed decision-making, and refer to genetic specialists — NOT to be directive about reproductive choices.

THREE MAIN PATTERNS TO MASTER:

1. AUTOSOMAL RECESSIVE:

• BOTH parents must be CARRIERS (heterozygous) for the child to be affected
• Each pregnancy has: 25% chance of AFFECTED child (homozygous recessive), 50% chance of CARRIER (heterozygous, unaffected), 25% chance of NORMAL (homozygous dominant)
• MALES AND FEMALES are equally affected
• Often appears to 'skip generations' (carriers don't show disease)
• Philippine-relevant examples: Sickle cell disease, Thalassemia, PKU, Galactosemia, Cystic fibrosis

2. X-LINKED RECESSIVE:

• Gene is carried on the X CHROMOSOME
• FEMALES with one affected X are CARRIERS (protected by the normal second X) — usually asymptomatic
• MALES with one affected X are AFFECTED (no second X to compensate)
• A CARRIER MOTHER has: 50% of sons = AFFECTED, 50% of sons = normal; 50% of daughters = CARRIERS, 50% = normal
• Fathers CANNOT pass X-linked traits to sons (they give Y to sons, not X)
• Examples: Hemophilia A and B, G6PD deficiency, Duchenne Muscular Dystrophy (DMD)

3. CHROMOSOMAL (NUMERICAL — ANEUPLOIDY):

• Due to NONDISJUNCTION during meiosis (chromosomes fail to separate)
• Results in extra or missing chromosomes
• Examples: DOWN SYNDROME (Trisomy 21), Turner syndrome (45, XO), Klinefelter syndrome (47, XXY)
• Risk of Down syndrome INCREASES with ADVANCED MATERNAL AGE
• NOT inherited in the traditional Mendelian sense — most cases are sporadic
• Recurrence risk is slightly elevated for parents who have had one affected child, but much lower than Mendelian disorders

GENETIC COUNSELING PRINCIPLES (NURSE'S ROLE UNDER RA 9173):

• Be NON-DIRECTIVE: Present information about risk without telling the family what decision to make
• Use SIMPLE, CLEAR LANGUAGE appropriate to the family's educational background
• Explain the RECURRENCE RISK accurately (e.g., 25% per pregnancy for autosomal recessive)
• Emphasize that each pregnancy is INDEPENDENT — having had one affected child does NOT protect the next child from being affected, nor does it guarantee the next will be affected
• REFER to genetic specialist or genetic counselor for comprehensive counseling
• Provide EMOTIONAL SUPPORT: guilt and self-blame are common among parents of children with genetic disorders