Pediatric 1 Study Guide PDF

Pediatric 1 Study Guide Friday, July 7, 2023 2:36 PM Phenylketonuria (PKU) Autosomal recessive disorder of amino acid metabolism ○ Decreased ability to metabolize the amino acid phenylalanine into tyrosine due to deficiency in the enzyme phenylalanine hydroxylase (PAH) → accumulation...

Pediatric 1 Study Guide Friday, July 7, 2023 2:36 PM Phenylketonuria (PKU) Autosomal recessive disorder of amino acid metabolism ○ Decreased ability to metabolize the amino acid phenylalanine into tyrosine due to deficiency in the enzyme phenylalanine hydroxylase (PAH) → accumulation of phenylalanine in body fluids/plasma → phenylketone neurotoxicity ○ MC inborn error of protein metabolism Irreversible if not detected by 3 yrs old Manifestations ○ Presents after birth w/ vomiting, mental delays, irritability, convulsions, eczema, increased deep tendon reflexes ○ Children often blonde, blue-eyed w/ fair skin Diagnosis ○ Normally screened for at 24 weeks gestation ○ Urine w/ musty (mousy) odor (from phenylacetic acid) ○ Neonates are screened 24-48 hrs after birth w/ one of several blood tests, abnormal results are confirmed by directly measuring phenylalanine levels ○ Phenylketonuria is present when plasma phenylalanine levels are >20 mg/dl Management ○ Lifetime dietary restriction of phenylalanine + increase tyrosine supplementation ▪ Phenylalanine levels are followed at regular intervals in neonates and less often in older children/adults ▪ Some adults show improvement in behavior, symptoms, and sequalae when treated w/ a phenylalanine restricted diet ○ Foods high in phenylalanine: milk, cheese, nuts, fish, chicken, meats, eggs, legumes, aspartame (found in diet soda) Rotavirus infection MCC of gastroenteritis in young unimmunized children ○ Children most likely to get rotavirus in the winter and spring (January through June) ○ Common outbreaks in childcare centers Transmission: oral ○ Ex. Putting unwashed hands that are contaminated w/ stool in mouth, touch contaminated objects and put fingers in mouth, eat contaminated food ○ Pts infected w/ rotavirus shed the virus in stool, most likely to shed when pts have symptoms and during the first 3 days aft er recovery Manifestations ○ Symptoms start 2 days after a person is exposed ○ MC include severe watery diarrhea (non-bloody), vomiting, fever, abdominal pain ▪ Can last 3-8 days ○ Loss of appetite ○ Dehydration (decreased urination, dry mouth, dry throat, feeling dizzy when standing up, crying w/ few or no tears, unusual sleepiness or fussiness) Prevention ○ Good handwashing and hygiene practice ○ Rotavirus vaccination (oral vaccine) ▪ RotaTeq: 3 doses at ages 2 months, 4 months, and 6 months ▪ Rotarix: 2 doses at ages 2 months and 4 months ▪ 9/10 children that are vaccinated will be protected from severe disease, 7/10 children will be protected from rotavirus of any severity Treatment ○ Drink plenty of liquids to prevent dehydration ○ No specific treatment Isolated proteinuria Proteinuria: >100mg/m2/day or 4 mg/m2/hour Differential diagnosis ○ Transient proteinuria ▪ Fever, exercise, stress ○ Isolated proteinuria ○ Post-renal proteinuria ○ Minimal change disease- in early stages ○ Orthostatic proteinuria ▪ Increase in urinary protein in upright position- >150 mg/day ▪ Returns to normal within 30 mins of lying down ▪ Otherwise asymptomatic, benign, usually in adolescents and young adults and resolves by adulthood ▪ Diagnosis □ Normal first morning urine protein □ 24 hr urine: split into day (upright) and night (supine) sample- protein usually 1.0 when upright but 3 months), step down off LABA is recommended □ Caution- NOT a rescue drug (NOT used in acute exacerbation)! LABA should not be used alone ▪ Mast cell modifiers □ Cromolyn (Intal), Nedocromil (Tilade) □ MOA- inhibits mast cell and leukotriene-mediated degranulation; used as prophylaxis only (may take several weeks) □ Improves lung function, decreases airway reactivity (inhibits acute phase response to cold air, exercise, and sulfites) □ Minimal SE- throat irritation ▪ Leukotriene modifiers/receptor antagonists (LTRA) □ Montelukast (Singulair), Zafirlukast (Accolate), Zileuton (Zyflo) □ MOA- blocks leukotriene mediated neutrophil migration, capillary permeability, smooth muscle contraction via leukotriene receptor inhibition □ Indication: Useful in asthmatics w/ allergic rhinitis/aspirin induced asthma Prophylaxis only □ Side effects: minimal (increased LFTs, headache, GI myalgias) ▪ Theophylline □ MOA- Methylxanthine (similar to caffeine); bronchodilator that improves respiratory muscle endurance, phosphodiesterase inhibitor which inhibits leukotriene synthesis and inflammation Not used often due to narrow therapeutic index; smoking decreases Theophylline levels so higher doses of Theophylline are needed in smokers Is a nonselective adenosine receptor antagonists (may have effect on the heart) □ Indications- long term asthma prophylaxis in selected pts; NOT used in acute asthma exacerbation □ Side effects: MC nervousness, nausea, vomiting, anorexia, headache, diuresis, tachycardia, CNS/respiratory stimulant Many drug interactions Narrow TI: toxicity causes arrhythmias, seizures ○ Adjuncts ▪ IV magnesium □ Bronchodilator; decreases calcium mediated smooth muscle contractions □ Indicated in severe asthma ▪ Heliox □ Decreases airway resistance b/c helium and oxygen is lighter than room air ▪ Ketamine □ IV anesthetic that has sedative, analgesic, and bronchodilator effects □ May be useful as an induction/sedation agent in young otherwise healthy population of intubated pts ▪ Omalizumab □ Anti-IgE antibody (inhibits IgE inflammation) □ Used in severe, uncontrolled asthma Classification of asthma severity Intermittent (mild) Persistent Mild Persistent Moderate Persistent Severe Symptoms 2 days/week (but not daily) Daily Throughout the day 1x/day) Daily Several times a day 80% predicted FEV1 60-80% predicted FEV1 5% FEV1 >80% predicted FEV1/FVC normal Recommended Management Inhaled SABA as needed Inhaled SABA as needed and low Low dose ICS and LABA OR High dose ICS + LABA dose ICS Increase ICS dose (medium) Possibly Omalizumab (Anti-IgE OR drugs) Add LTRA Exacerbation requiring PO 0-1/year >2/ year >2/ year >2/ year steroids ○ A 40 yr old known asthmatic is in the ER w/ complaints of sudden onset of breathlessness. Pt has no other significant medical history. Pt is unable to speak, unable to stand, w/ a RR >30, and has paradoxical thoracoabdominal movements. Pt has bradycardia. Little air movement is seen w/o wheez e. The peak expiratory flow rate 10 degrees Etiology ▪ "De novo" (degenerative changes in adulthood) or AIS (presence in adolescence) ▪ Paralysis, trauma, spinal surgery Risk factors ▪ Can be associated w/ kyphosis or lordosis, 8-10 yo, girls, family history, in adults >50 yo If associated w/ café au lait spots, skin tags, or axillary freckle: neurofibromatosis Presentation ▪ Asymptomatic ▪ Back pain, postural imbalance w/ difficulty standing/walking, symptoms of spinal stenosis, neurologic deficits, decreased hei ght, change in posture, asymmetry Diagnosis ▪ Adams forward bending test is most sensitive ▪ X-ray (lateral) curvature w/ Cobb angel >10 degree and complete closure of the iliac crest epiphysis ▪ Screening for scoliosis: ▪ Usually at routine visits b/w 10-18 yrs old, sometimes also done at school □ Most important to be done before pubertal growth spurts □ Done w/ Adam's forward bend test ▪ For 6-9 yr olds □ Annual screening if there is a RF present (family history, Ehlers-Danlos) Treatment ▪ Observation, symptomatic treatment, causative treatment, bracing (if curvature is >30 degrees or a growth of >5 degrees in 6 months), possibly surgery if >40 degrees Cervical adenopathy differential diagnosis/common causes URI/tonsillitis ▪ Reactive lymphadenopathy due to viral infection (rhinovirus, RSV, etc) ▪ Acute and bilateral (GAS) Streptococcal pharyngitis ▪ Flu-like symptoms + sore throat, enlarged/red/exudative tonsils and enlarged tender anterior cervical LN ▪ Children