Congenital Heart Diseases PDF

Key Points 🔑 💎 1-Cardiology Acyanotic conditions: -VENTRICULAR SEPTAL DEFECT (VSD) Membranous 80%, Muscular, Inlet. large VSD ---\> large shunt and there will be progressive increase in right ventricular (RV) & pulmonary artery pressure ---\> increase of the pulmonary vascular resistance whic...

Key Points 🔑 💎 1-Cardiology Acyanotic conditions: -VENTRICULAR SEPTAL DEFECT (VSD) Membranous 80%, Muscular, Inlet. large VSD ---\> large shunt and there will be progressive increase in right ventricular (RV) & pulmonary artery pressure ---\> increase of the pulmonary vascular resistance which causes reverse shunt Rt-Lt. (Eisenmenger syndrome) which is irreversible. Dyspnea, feeding difficulty, poor growth, profuse sweeting, recurrent pulmonary infection. Holosystolic murmur (harsh in small) Mid diastolic rumbling murmur cardiomegaly, dilated pulmonary vessels Larg VSD Tx: pulmonary arty banding or total surgical repaire at: Any age, 6-12 months can't control symptoms, with supracristal VSD of any size. -ATRIAL SEPTAL DEFECT (ASD) Primum, Secondum 80%, Sinus venosus Loud 1st heart sound. 2nd heart sound split widely and fixedly. Systolic ejection murmur. Cardiomegaly ECG: Right axis deviation, Incomplete RBBB. Echo: Trans-thoracic & trans-esophageal Echo is essential for Dx. If symptomatic do Surgery or Transcatheter device closure. The surgery done after 1 yr. of age and before enterance to school. -ATRIOVANTRICULAR SEPTAL DEFECT Partial: ASD primum, clefted mitral valve.intact VSD, either asymptomatic (mainly) or mild symptoms. O/E: ASD murmur of mitral regurgitation. Complete: ASD primum, large inlet VSD, common single atrioventricular valve. as the above with heart failure and/or pulmonary vascular disease. Cardiomegaly, RBBB, RVH. surgical correction: Complete AVSD : risk of PHPT during 1 st 6-12 mo. ------\> surgery in early infancy Sometimes do pulmonary banding if too small baby or associated with deformity that make surgery risky. -PATENT DUCTUS ARTERIOSUS (PDA) Mothers with congenital rubella. Small: Asymptomatic. Large: Hf , growth retardation Bounding peripheral pulse Wide pulse pressure Large heart Large PDA, there is normal axis deviation, left ventricular hypertrophy or biventricular hypertrophy. Closure regardless of age. Thoraco-scopic. Trans-catheter: Small -\> coil. Large -\> sac in which several coils released or umbrella --like device. Endomethacin is often effective in closing the PDA in the premature neonate by decreasing PGE1 levels. -COARCTATION OF THE AORTA High blood pressure with routine physical examination. neonatal period Lt body hypoperfusion, acidosis, HF Complications Untreated ---\> Succumb at 20-40 yr. IE Aneurysms of the descending aorta or collaterals. Neonates : hypoperfusion + HF Tx: 1\. In neonate -\> PGE1 -\> surgery 2\. Older children -\> HF -\> antifailure -\> surgery 3\. Surgery: stabilize him Excision and primary re-anastamosis Subclavian flap. Patch aortoplasty. -PULMONARY STENOSIS Vulvular 90%, Supravalvular, Subvalvular. 1\. Mild: asymptomatic 2\. Moderate: thickened valve, RVH. 3\. Severe: valve deformity, Rt.sided failure, hepatic enlargment, periphral edema. Tx: 1\. Mild: reassurance. 2\. Moderate or severe -\> balloon valvuloplasty. 3\. Critical pulmonic stenosis -\> valvuloplasy, valvutomy. Cyanotic conditions: -TETRALOGY OF FALLOT Combination of :- 0\. pulmonary stenosis 0\. VSD 0\. Overriding of aorta. 0\. Right ventricular hypertrophy. Mild: initially heart failure -\> with age , patient grows -\> infandibular hypertrophy cyanosis develops in 1st year of life. Severe obstruction -\> cyanosis develops immediately after birth. In older children ,long standing -\> dusky blue skin, grey sclera, engorged blood vessels, clubing of fingers & extracardiac manifestation. Dyspnea on exertion -\> so they stop to take rest or have squatting position. Growth retardation (if severe and untreated). Delayed puberty. Examination: Lt. hemithorax bulged because of RVH. Ejection systolic, can be holosystolic due to VSD. CXR : boat shaped heart Cyanotic spell Usually at 4-6 mo. Patient restless , cyanosed , gasping , syncop follows. Mainly after awakening or vigorous exercise. Increases intensity of the murmur. Continued for few min.-few hrs. Followed by generalized weakness ,sleep. Tx: 1\. Put him on abdomen , knee-chest position. 2\. O2. 3\. Morphine ( 0.2mg/kg s.c ) -\> relaxe pulmonary infandibulum and sedate child. 4\. Premature attempts to get blood sample -\> agitation. 5\. If severe -\> NaHCO3 to correct acidosis. 6\. If still resistant -\> phenylephrine or methoxanthem Surgical Rx 2 options: -Palliative -Corrective Time: 4-12 mo. -TRANSPOSITION OF GREAT VESSELS Either d-TGA or l-TGA. Either with VSD or without. Male \> female. 50% with VSD. For d- TGA -\> aorta arises from RV and pulmonary art. From LV. Aorta anterior and to the right of pulmonary art. cyanosis & tachycardia. HF less common if untreated -\> not survive neonatal period. cardiomegaly Tx: Infusion of PGE1 If no response -\> Rashkind Balloon septostomy -\> then arterial switch operation (Jantene operation) within 2 wks. If TGA&VSD -\> do Rashkind operation. -HEART FAILURE o Severe : symptoms at rest o Less severe : symptoms even to mild activity but comfortable when quite o Less less severe : just vigorous exercise causes symptoms Infant Tachypnea, Feeding difficulty, Poor weight gain, Excessive sweeting, Irritability, Weak cry, Noisy , labored breathing, Flaring of alae nasi, Intercostal and subcostal recession, Cardiomegaly invariably present, Hepatomegaly common, Gallop rythem, Jugular venous pressure difficult, Edema usually generalized. Older children Fatigue, Effort intolerance, Cough, Dyspnea, Abdominal pain, systemic venous pressure, hepatomegaly, jugular pressure, Orthopnea & basilar ralves variable, Edema usually in dependant parts, Cardiomegaly invariable, Gallop rhythem common, Dilated heart, hologystolic murmur of MR ,TR. Dx: Cardiac enlargement ventricular hypertrophy between 28% and 40% Measure ejection fraction normaly(55%-65%) Tx: 1- General measures: rest, o2, Na and fluid restriction 2- Diuretics: Lasix : most commonly used o Initial dose 1-2 mg/kg /dose i.v. o Chronic dose 1-4 mg/kg/day ÷ 1-4 times/day orally. 3- Inotropic agents: digitalis dopamine ,dobutamine 4- Afterload reduction hydralazine,nitoprusside,captopril,enalapril. Digoxin Dosage according to age: o Premature =20 мg/kg o Full term = 20-30 мg/kg o Child + infant = 25-40 мg/kg -SUPRAVENTRICULAR TACHYCARDIAS 1\. Fetus : o HF + Hydrops fetalis 2\. Infant : o HF because of prolonged unrecognized tachycardia. o Heart rate :200-300 beats/min o Irritable , restless, hepatomegaly, tachypnea ,fever , leuckocytosis. 3\. Children: o Abrupt onset and cessation o Continue few min. to hrs. o Ppt. by acute infection, sympathomemtic drugs , palpitation. ECG ⁃ Narrow QRS complex. ⁃ P -- Wave visible in 50-60% of patients. ⁃ Heart rate 180-300 beats/min. Tx: 1\. Vagal stimulation 2\. Pharmacologic : -If stable -\> i.v. bolus adenosine. -If HF developed and urgent -\> synchronized DC cardioversion 0.5-2 j / kg. -If convert to sinus rhythm -\> keep him on maintenance (either digoxin or propranolol). -If still resistant -\> radiofrequency ablation or surgical ablation. 2-ENDOCRINE -D.M DM: polyuria, polydipsia, polyphagia and Wt.loss. Diabetic ketoacidosis (DKA): (20--40%) Abdominal discomfort, nausea, vomiting, Sever dehydration with persistent polyuria. leads to: Kussmaul respirations (deep, heavy, rapid breathing), Fruity breath odor (acetone), diminished neurocognitive function, and possible coma. ⁃ Symptoms of DM + Fasting plasma glucose ≥126 mg/dL (7.0) or ⁃ Symptoms of DM + Random plasma glucose ≥200 mg/dL (11.1) or ⁃ 2-hr plasma glucose during the OGTT ≥200 mg Tx: Types of insulin and their regimens used are: Actrapid (soluble) , monotard (lente), & mixtard ( 30/70) 1-Two doses regimen: ( actrapid 1/3 and monotard 2/3) or mixtard only with 2/3 of the daily dose in the morning and 1/3 in the evening. 2-Basal bolus regimen: insulin analogs (Lispro (L) and aspart), The long-acting analog glargine (G) creates a much flatter 24-hr profile. The basal insulin glargine should be 25--30% of the total dose in toddlers and 40--50% in older children. The remaining portion of the total daily dose is divided evenly as bolus injections for the 3 meals. Manegmant of diabetic Ketoacidosis 1\. Admission to the emergency unit. 2\. ABC if the patient is comatosed and O2 to be delivered via mask. 3\. IV LINE and Aspiration of blood for RBS, B.urea, S.Cr, S.K, S.Na, S.Cl, CBP, B.C/S ,ASTRUP , Urine for ketone, sugar, pus cell. 4\. Calculation of the deficit and maintenance of the fluids ; to be replaced over 36- 48 hours (hyperosmotic dehydration) Oral fluid is stopped and only sucking of chips of ice is allowed. 5\. IV fluid (0.9%N/S or RL bolus 10 - 20ml / kg /1 st hour) and then rate of fluid replacement from the 2 nd hour till resolution of DKA calculated according to the following formula : ( 85× Bwt + maintenance -- bolus / 23 hours= rate / hour ). Change the type of the fluid from N/S to 5% GW or G/S (,1/3,1/5) when RBS is less than 250 mg/dl. 6\. KCl: the patient is hypokalemic even if S.K was normal. 20 - 40 meq/L (1 ml = 2 meq) and sometimes increased to 60 meq/L. 7\. INSULIN : either IV continuous infusion via a separate IV line started at time zero OR interrupted IM or IV dose started after one hour (the dose in both ways is 0.1 unit /kg/h) Changed to SC insulin and start oral fluid when there are no emesis, or acidosis with normal electrolytes. 8\. Sod. Bicarbonate : only used in sever acidosis (PH less than 7.1) in a dose of 20-40 meq ( 1 ml = 1 meq) with the fluid. 9\. Mannitol :10% if signs of cerebral oedema appear in a dose of 1 gm / kg IV infusion. 10\. Antibiotic : if infection is present. -Hypothyroidism Congenital Hypothyroidism: Most infants with congenital hypothyroidism are asymptomatic at birth, even if there is complete agenesis of the thyroid gland due to the transplacental passage of moderate amounts of maternal T4. By 3--6 months of age the clinical picture is fully developed. Retardation of physical and mental development. gestation greater than 42 weeks, birth weight greater than 4 kg, hypothermia, acrocyanosis, respiratory distress, open large anterior and posterior fontanelle, abdominal distention, lethargy and poor feeding, jaundice more than 3 days after birth, edema, umbilical hernia, mottled skin, constipation, large tongue, dry skin, and hoarse cry. Tx: Levothyroxine Neonates, the starting dose is 10--15 μg/kg/ day Children with hypothyroidism require about 4 μg/kg/24 hr Adults require only 2 μg/kg/24 hr. Acquired Hypothyroidism: decline in growth velocity, especially if not associated with weight loss. most common cause: Hashimoto thyroiditis Hx: Poor growth Dull facies: thick lips, large tongue, depressed nasal bridge, periorbital edema, Dry scaly skin, Sparse brittle hair, Diminished sweating, Carotenemia, Vitiligo. Sinus bradycardia/heart block, Cold extremities, Cold intolerance, Pallor. -firm, nontender euthyroid, hypothyroid, or, rarely, hyperthyroid (hashitoxicosis) diffuse goiter. -insidious onset after 6 years of age -Associated autoimmune diseases include diabetes mellitus type 1 (DM1), adrenal insufficiency (Schmidt syndrome), and hypoparathyroidism. -Trisomy 21 and Turner syndrome predispose to the development of autoimmune thyroiditis. Dx: T4 low, TSH high, prolactin high. Confirmed by serum antithyroid peroxidase (previously antimicrosomal) and antithyroglobulin antibodie. -Growth hormone deficiency Hypopituitarism Congenital hypopitutarism: -The child with hypopituitarism is usually of normal size and weight at birth. -Children with severe defects in GH production or action are more than 4 SD below the mean by 1 yr of age. -Infants present with neonatal emergencies such as apnea, cyanosis, or severe hypoglycemia with or without seizures. -Microphallus in boys provides an additional diagnostic clue. -Prolonged neonatal jaundice is common. The head of the toddler is round, and the face is short, The nose is small, and the nasolabial folds are well developed. The eyes are somewhat bulging. neck is short, and the larynx is small. The voice is high- pitched and remains high after puberty. -genitalia are usually small for age. Acquired hypopitutarism: -When complete or almost complete destruction of the pituitary gland occurs, signs of pituitary insufficiency are present. -Atrophy of the adrenal cortex, thyroid, and gonads results in loss of weight, asthenia, sensitivity to cold, and absence of sweating. -Sexual maturation fails to take place or regresses if already present. There is a tendency to hypoglycemia. -Growth slows dramatically. -In children with craniopharyngiomas, visual field defects, optic atrophy, papilledema, and cranial nerve palsy are common. Dx: -Criteria for growth failure include height more than 2 SD below the mean for age and sex, or height more than 2 SD below mid-parent height. -Definitive diagnosis of GH deficiency traditionally requires demonstration of absent or low levels of GH in response to stimulation. -In chronic GH deficiency, the demonstration of poor linear growth, delayed skeletal age, and peak levels of GH (\1g/m/d Blood: Hyperlipidemia s.cholesterol \>250 mg/dl, Hypoalbunemia. Indications of renal biopsy before treatment: 1-hematuria 2- hypertension 3-renal insufficiency 4- hypocomplementemia. Tx: 1-supportive reduced Sodium intake fluid restriction Treatment of infections 2-diuretics chlorothiazide (10 mg/kg/dose IV every 12 hr) ormetolazone (0.1 mg/kg/dose PO bid) Furosemide (1--2 mg/kg/dose IV q 12 hr). 3-IV administration of 25% human albumin (0.5g/kg/dose) followed by Furosemide if: Hypovolemic shook, Sever anasarca. 4-prednisone 60 mg/m2/day for 4 weeks -Hypertension Tx: ACEI: Captopril,enalapril,lisinopril 0.5-2 mg/kg/day every 8 hours CCB: dose of nifedipine 0.25-0.5 mg/kg/dose every 4-6 hours Diuretics: Furosemide........ 0.5-2 mg/kg/dose 2x Thiazide........ 5-10 mg/kg/dose Beta blockers: Dose (0.5-2 mg/kg/day every 6-12 hours). -Acute renal failure diarrhea = prerenal RF, hematurea = intrarenal RF, renal stones = postrenal RF Control dangerous hyperkalemia (in order) S. k more than 6 meq/l (Normal range: 3.5 -- 5.3) 1- Calcium gluconate 10% solution (to protect the heart) 2- Sodium bicarbonate 7.5%solution 3- Glucose 50 % with insulin 1unit/5 g glucose (Don\'t ever give insulin alone -\> Hypoglycemia.) 4- B receptor agonist 5- Oral or rectal potassium exchange resine (kayexalate) Antibiotics may be used to treat infection Diuretics may be used to remove fluid Dialysis Indications: 1- Uncontrollable fluids overload or hypertension 2- Uncontrollable acidosis 3- Uncontrollable electrolyte disturbances (Na, K) 4- Pericarditis -\> pericardial rub \*\* 5- Change in mental status \*\* 6- Anuria 7- Uncontrollable accumulations of nitrogen waste products 8- Uncontrollable hyperkalemia \*\* -hemolytic-uremic syndrome Hemorrhagic E. coli Characterized by the triad of microangiopathic hemolytic anemia Thrombocytopenia uremia Typical HUS Microangiopathic hemolytic anemia Thrombocytopenia Acute renal failure Prodromal diarrheal illness, often hemorrhagic colitis Also called diarrhea-associated (D+HUS) or Stx HUS (Shiga toxin protein associated illness) Most common etiologic agent is Shiga-like toxinproducing E coli. Tx: Blood transfusion for symptomatic anemia control of hypertension meticulous attention to fluid and electrolytes Early institution of dialysis NO Antibiotic therapy for E. coli, it will increase risk of HUS. -UTI E. coli (60-80%), Proteus, K Enterococcus. 3 basic forms: 1-pyelonephritis: rigor, vomiting, and poor feeding. Older: abdominal or flank pain, fever, malaise, nausea, vomiting, and, occasionally, diarrhea. 2-Cystitis: urgency, frequency, dysuria. 3-Asymptomatic bacteriuria: positive urine culture without any manifestations of infection. Dx: -General urine exam -Microscopical exam: Pus cells in urine -urine culture -Pyelonephritis: leukocytosis, neutrophilia, esr -Renal U/S, KUB, DMSA, IVU, Cystogram Tx: -trimethoprim-sulfamethoxazole is effective against most strains of E. coli. -Nitrofurantoin (5--7 mg/kg/24 hr in 3 to 4 divided doses) also is effective and has the advantage of being active against KlebsiellaEnterobacter organisms. -Amoxicillin (50 mg/kg/24 hr) -Acute febrile infections suggestive of Pyelonephritis: A 10- to 14-day course of broad-spectrum antibiotics (Ceftriaxon). Recurrent UTI: two or more episodes of acute Pyelonephritis Or one episode of acute pyelonephritis plus one or more episode of cystitis Or three or more episodes of cystitis. -WILMS TUMOR Associated with Beckwith-Wiedemann syndrome, neurofibromatosis. Presents as an asymptomatic, nontender, smooth abdominal mass that does not usually cross the midline. Abdominal pain, fever, hypertension, and microscopic or gross hematuria may be seen. Dx: Biopsy or fine-needle aspiration is required for definitive diagnosis. Tx: Local resection and nephrectomy with postsurgical chemotherapy and radiation depending on stage and histology. -Vesicoureteral Reflux (VUR) Retrograde projection of urine from the bladder to the ureters and kidneys. Caused by: posterior urethral valves, urethral or meatal stenosis, or a neurogenic bladder. Classified as follows: Mild reflux (grades I--II): No ureteral or renal pelvic dilation. Moderate to severe reflux (grade III--V): Ureteral dilation with associated caliceal blunting in severe cases. Hx: Patients present with recurrent UTIs, typically in childhood. Prenatal ultrasonography may identify hydronephrosis and/or oligohydramnios. Dx: -Treat UTI first with antibiotics and ultrasound. Follow-up abnormalities with voiding cystourethrogram. Tx: Treat infections aggressively. Surgery (ureteral reimplantation) for severe. 4-RESPIRATORY -Croup🐶steeple sign Barking cough and may be associated with: hoarseness inspiratory stridor respiratory distress The parainfluenza viruses (types 1, 2, and 3) account for ≈75% of cases; influenza A and B, adenovirus, respiratory syncytial virus and measles. Hx: URTI with rhinorrhea, pharyngitis, cough, and low-grade fever for 1--3 days Then characteristic barking cough, hoarseness, and inspiratory stridor. Mostly slight dyspnea before recovery. Hypoxia, cyanosis, pallor, or obtundation needs immediate airway management. Rarely, the upper airway obstruction progresses and is accompanied by an increasing respiratory rate; nasal flaring; suprasternal, infrasternal, and intercostal retractions; and continuous stridor. Dx: Neck X-ray may show typical subglottic narrowing "steeple sign" on PA view. -Acute Epiglottitis👍🏼thumb sign Haemophilus influenzae type-b (Bacteria), Strep. pyogenes, Strep. pneumoniae, and Staph.aureus, after HiB vaccine. Hx: Healthy child suddenly develops a high fever, sore throat, dyspnea, and rapidly progressing respiratory obstruction. Within hours, appears toxic, difficult swallowing, and labored breathing. Dx: -laryngoscopy should be performed quickly in a controlled environment such as ICU. -Visualization of a large, "cherry red" swollen epiglottis by laryngoscopy. -Classic radiographs of a child who has epiglottitis show the "thumb sign" Tx: Epiglottitis is a medical emergency and warrants immediate treatment with an artificial airway placed under controlled conditions, either in an operating room or intensive care unit Ceftriaxone or cefotaxime for 7-10 days Epiglottitis resolves after a few days of antibiotics, and the patient may be extubated; antibiotics should be continued for 7--10 days. -Spasmodic Croup -Laryngoscopy reveals pale, watery edema with preservation of the epithelium. -child awakens with a characteristic barking, metallic cough, noisy inspiration, and respiratory distress and appears anxious and frightened. Tx: for all the Croups -airway management -Most children with either acute spasmodic croup or infectious croup can be managed safely at home. Mist has been traditionally used to treat croup. -Nebulized racemic epinephrine is an accepted treatment for moderate or severe croup. -Oral dexamethasone used a single dose of 0.6 mg/kg. -Bronchiolitis Wheezing is heard mostly on expiration. Chronic bronchiolitis is diagnosed when it lasts for at least 3 months. RSV is responsible for \>50% of cases parainfluenza ,adenovirus., Mycoplasma pn. Characterized by bronchiolar obstruction with edema, mucus, and cellular debris. Hx: Infant 1st develops a mild URTI with sneezing and clear rhinorrhea. Fever of 38.5--39°C Gradually, respiratory distress, paroxysmal wheezy cough, dyspnea, and irritability. Tachypnea, Nasal flaring and retractions. Fine crackles or overt wheezes, with prolongation of the expiratory phase. Hyperinflation of the lungs may permit palpation of the liver and spleen. Dx: -first-time wheezing episode during a community outbreak. -chest radiography reveals hyperinflated lungs with patchy atelectasis. -Viral testing Tx: -Infants with acute bronchiolitis who are experiencing respiratory distress should be hospitalized. -treatment is supportive -A trial dose of inhaled bronchodilator. -PNEUMONIA Clues to bacterial pneumonia include: Alveolar infiltrate, lobar or segmental consolidation, large pleural effusion, elevated CRP, leukocytosis, signs of sepsis, and chills. Newborn: organisms from the mother 's genital tract, particularly: group B streptococcus Gram negative enterococci and bacilli. Infants and young children: Respiratory viruses : RSV are the commonest Bacterial infections include: Streptococcus pneumonia H. influenzae Staphylococcus aureus Children over 5 years: Mycoplasma pneumoniae Streptococcus pneumoniae Chlamydia pneumoniae. Hx: Fever, cough and shortness of breath are the most common presenting symptoms. usually preceded by a URTI. lethargy, poor feeding, and appearing 'unwell'. Some children do not have a cough at presentation. Localized chest, abdominal, or neck pain is a feature of pleural irritation. Exam: tachypnea and Dyspnea. localized dullness, decreased breath sounds, bronchial breathing, coarse crackles, stony dull' if effusion or empyema. The choice of antibiotic: Newborns : broad spectrum iv antibiotics. older infants: Most can be managed with oral amoxicillin. co-amoxiclav or 3rd g. cephalosporine for complicated or unresponsive pneumonia. over 5 years of age: either amoxicillin or an oral macrolide. Antibiotic regimens for atypical bacterial pneumonia in hospitalized children include: 1\. Erythromycin 40 mg/kg per day IV in four divided doses, maximum 4 g/day, or 2\. Azithromycin 5 mg/kg once per day IV, maximum 500 mg/day, or 3\. For children older than 8 years: Doxycycline (4 mg/kg per day IV in two divided doses; maximum 200 mg/day) -Asthma Hx: -Intermittent dry coughing and/or expiratory wheezing are the most common chronic symptoms of asthma. -shortness of breath -worse at night -Daytime symptoms, often linked with physical activities. Dx: -Lung function tests -Chest radiographs: hyperinflation and peribronchial thickening. -Allergy testing: prick skin testing. Persistent Asthma if any of the following: -Daytime asthma symptoms at least 3 times wk -Awakens at night at least 3 times per month -Experiences asthma exacerbations that requires short courses of systemic corticosteroids at least 3 times a yr. -Either mild, moderate or severe persistent Asthma. Otherwise it is called mild intermittent severity. Tx: -Daily ICS therapy as the treatment of choice for all patients with persistent asthma. Controller Therapy: -Mild persistent asthmatics: low dose ICS Alternatives: Leukotriene receptor antagonists or Theophylline (only for patients \>5 yr of age) -Moderate persistent asthma Young children: Medium-dose ICS alone. Older children: Combination of a low-to-medium dose ICS with a long-acting β-agonist. -Severe persistent asthmatics: High-dose ICS Long-acting B agonist Oral corticosteroids if needed. -BRONCHIECTASIS🚊 tram lines Recurrent cycles of infection and inflammation in the bronchi/bronchioles that leads to fibrosis, remodeling, and permanent dilation of bronchi. Hx: Chronic productive cough accompanied by frequent bouts of yellow or green sputum production, dyspnea, and possible hemoptysis and halitosis. Dx: -CXR: Shows ↑ bronchovascular markings and tram lines (parallel lines outlining dilated bronchi as a result of peribronchial inflammation and fibrosis). -Most accurate test: High-resolution CT: Dilated airways and ballooned cysts. -Spirometry/PFTs: Obstructive pattern with ↓ FEV1/FVC ratio. Empiric therapy: Respiratory fluoroquinolone (levofloxacin, moxifloxacin). 5-HEMATOLOGY -Iron deficiency anemia Symptoms and signs Specific to iron deficiency; patients with long-standing deficiency may develop changes like : Nail flattening and koilonychia (concave nail), Sore tongue and papillary atrophy, Angular stomatitis (painful cracks appear at the angle of the mouth). Psychomotor delay and behavioral problems in young children. Dx: The blood counts: Low Hb, MCV, MCH, and MCHC. Blood film: microcytic hypochromic red cells TIBC high Confirmatory tests:✺ non specific Low serum iron Increased total iron binding capacity ✺ normally it\'s 30% saturated Serum ferritin is probably the most useful of these tests ✺ ferritin is tissue iron Prevention: -Breast feeding until 5-6 mo, beyond 6 mo add fe supplementation -Iron-fortified formula for first 12 mo -Iron-fortified cereal early with solid foods -Avoid cow's milk until 9-12 months -Hemolytic anemia Anemia, Reticulocytosis, Indirect Hyperbilirubinemia Reduced life span of RBC rather than underproduction by the bone marrow. Classification of Hemolytic Anemia 1-Inherited disorders: -RBC membrane defect; Hereditary Spherocytosis and Hereditary Elliptocytosis -Enzyme defect; G6PD and Pyruvate Kinase deficiency -Hemoglobin defects; Thalassemia syndromes and Sickling disorders 2-Acquired disorders -Immune mediated: ⁃ Auto immune (autoimmune hemolytic anemia). ⁃ Alloimmune (hemolytic disease of newborn, hemolytic transfusion reaction). -Non-immune and trauma: valve prosthesis, microangiopathy, infection, drugs or chemicals, hypersplenism, secondary (liver and renal disease). -G6PD Deficiency Heinz bodies 1-Neonatal jaundice: Jaundice usually appears by age 1-4 days. 2-Acute hemolytic anemia beyond the neonatal period: ⁃ Typically; most patients are asymptomatic until exposed to an exciting agent (such as oxidative drugs or chemicals, infection, or ingestion of fava beans). ⁃ Non-specific symptoms; acute abdominal pain, vomiting or diarrhea ⁃ Hemoglobinuria (cola-colored urine) \-\-\-- jaundice \-\-\-\-\-- symptoms of anemia such as lethargy and irritability\-\-\--cardiovascular decompensation may occur. ⁃ Most acute hemolytic episodes are mild & self-limiting ⁃ Possible Complications; renal failure or death following a severe hemolytic event. Dx: I. During an attack, the following lab. findings are present: 1\. Anemia 2\. Peripheral Blood film (smear) shows; ⁃ Normochromic normocytic anemia of varying degrees ⁃ Small cells (poikilocytes), some of which are spherocytic or fragmented. ⁃ Characteristic findings include "bite" cells 3\. Reticulocytosis. 4\. Heinz bodies (inclusion bodies) detected by using special (supravital) stains. Tx: During the attack: o Remove offending drug & treat any underlying infection o Brisk hydration to ensure adequate urine output that will prevent clogging of renal tubules. o Transfusion may be necessary in severe hemolysis. o Teaching to avoid oxidant drugs, chemicals, & fava beans. -Auto Immune hemolytic anemia Production of Antibodies against an individual's own RBC membrane Antigens, which leads to hemolysis. Clinical features Pallor Jaundice Non-specific: lethargy, abdominal pain, or low-grade fever. If hemolysis is severe, the urine may be dark. Hyperdynamic circulation Enlarged spleen and liver. Laboratory findings -Anemia; Hemoglobin level---very low -Peripheral blood smear; prominent spherocytes, polychromasia, macrocytes, autoagglutination (antibodies best detected at 37°C) -Reticulocytosis---common -Evidence of hemolysis: Hyperbilirubinemia. -Direct coomb's test---positive -Thalassemia syndromes ß -Thalassaemia major: Clinical features: ⁃ Anemia first becomes apparent between 3-6 months when production of HbF declines, the infant clinically normal at birth (as fetal Hb does not contain ß chains) then during first year of life; Progressive anemia will occur. ⁃ Failure to thrive ⁃ Hepatosplenomegaly & jaundice. ⁃ The severity of this anemia results from a combination of ineffective erythropoiesis and shortened survival of the red blood cell in circulation. Complications 0\. Hemolysis include expansion of bones leads to thinning of cortex & tendency to fractures, bossing of skull & specific facies with hair-on-end appearance on x-ray, gallstones & chronic leg ulcers. 0\. Iron overload caused by repeated transfusion, increased iron absorption due to ineffective erythropoiesis; The complications of iron overload affect all organs of the body, including the heart (failure), liver (cirrhosis), thyroid (hypothyroidism), pancreas (diabetes), and (delayed growth and sexual maturity) unless chelation therapy is given. 0\. Infections secondary to splenectomy & blood transfusion transmitted viruses. Laboratory diagnosis I. Complete blood picture: ⁃ The Hb level ranges from 2-8 g/dL. ⁃ Microcytic hypochromic anemia. ⁃ Blood film: nucleated RBCs, target cells, polychromasia, anisopoikilocytosis, basophilic stippling. ⁃ MCV and MCH are significantly low. II\. Hemoglobin electrophoresis: elevated HbF (\>50%) with variable HbA2. III\. Evidence of hemolysis: Unconjugated hyperbilirubinaemia. IV\. Iron studies show high serum iron & ferritin levels V. DNA analysis. detect deletions & mutations in the β globin producing genes VI\. Both parents will have β -thalassemia trait. Tx: I. Blood transfusion: every 4-6 weeks with fresh, filtered blood to maintain the Hb \> 10g /dl II\. Iron chelation: start after 10-15 units of blood, ⁃ Desferioxamine by s.c infusion over 8-12 hours, 5-7 days weekly III\. Splenectomy IV\. Stem cell transplantation -Sickle Cell Disease Clinical features ⁃ Most patients have asymptomatic periods alternates with recurrent symptomatic episodes. ⁃ Vaso-occlusive episodes; The most common complaint is of pain & recurrent episodes may cause irreversible organ damage. ⁃ It may occur early in the first year of life as "dactylitis" that involves the small bones of the hands and feet (hand-foot syndrome) ⁃ Acute sequestration episode; This is an acute trapping of blood in the spleen and less frequently in the liver caused by impaired egress of blood out of these organs due to clogging by sickled cells. ⁃ Infection; due to functional asplenia Dx: 0\. Blood film: sickled cells, marked poikilocytosis, target cells. 0\. Screening tests for sickling: the blood sample is deoxygenated to induce sickling. 0\. Hemoglobin electrophoresis: in sickle cell anemia (HbSS). ☆ definitive dx ☆ Tx: I. Treatment of vaso-occlusive crisis include: Hydration Pain control Empirical antibiotics Blood transfusion (simple or exchange transfusion) II\. Chronic transfusion therapy. III\. Prophylactic oral penicillin at least until 5 years of age IV\. Routine childhood immunizations & annual administration of influenza vaccine are highly recommended. V. Medical intervention; Stimulation of increased hemoglobin F production (hydroxyurea). -Fanconi's Anemia Clinical presentation: Hyperpigmentation of the trunk, neck, as well as café-au-lait spots and vitiligo. Short stature & growth failure may be associated with abnormal growth hormone secretion, or with hypothyroidism. Absent radii and hypoplastic, bifid, or absent thumbs are common. Many patients have a Fanconi "facies," including microcephaly, small eyes, and epicanthic folds. Approximately 10% of patients are mentally retarded. Ectopic, pelvic, or horseshoe kidneys are detected by imaging. Laboratory Findings Marrow failure usually ensues in the 1st decade of life. The marrow becomes progressively hypo-cellular and fatty, similar to severe acquired aplastic anemia. Chromosome fragility is due to spontaneously occurring chromatid breaks. Treatment If the hematologic findings are stable and there are no transfusion requirements, observation is indicated. Hematopoietic stem cell transplantation is the only curative therapy for the hematologic abnormalities. -Hemostasis (Coagulation factor deficiency) Hemophilia A or B Deficiencies of factors 8 and 9 Clinical Manifestations The hallmark of hemophilia is hemarthrosis Bleeding into the joints may be induced by minor trauma; many are spontaneous. Life-threatening bleeding in the patient with hemophilia is caused by bleeding into vital structures (CNS, upper airway, GIT, or ilio-psoas hemorrhage) Neither factor VIII nor factor IX crosses the placenta; bleeding symptoms may be present from birth. About 2% of neonates with hemophilia sustain intracranial hemorrhages and 30% of male infants with hemophilia bleed with circumcision. Obvious symptoms of easy bruising, intramuscular hematomas, and hemarthrosis begin when the child "begins to cruise". Dx: PTT prolonged in FVIII or FIX deficiency Platelet count, bleeding time, prothrombin time, and thrombin time are normal Specific assay for factors VIII and IX will confirm the diagnosis of hemophilia. Tx: Early, appropriate therapy is the hallmark of excellent hemophilia care: 1\. Factor VIII or IX concentrate: When mild to moderate bleeding occurs, levels of FVIII or FIX must be raised to hemostatic levels in the 35--50% range For life-threatening or major hemorrhages, the dose should aim to achieve levels of 100% activity. 2\. Intranasal Desmopressin in mild hemophilia A, it is not effective in hemophilia B 3\. Prophylaxis treatment: recombinant FVIII or IX products, it was recently started aiming to be the standard of care for most children with severe hemophilia to prevent spontaneous bleeding and early joint deformities. -Von Willebrand's Disease Clinical features of VWD ⁃ Generally mild bleeding - often unrecognized until surgery or injury ⁃ Epistaxis, menorrhagia, easy bruising, dental and post operative bleeding ⁃ Can be severe in certain types VWD -types Type I: most frequent, quantitative defect (decreased VWf) Type II: qualitative defect (abnormal VWf) Type III: severe, rare, (absence of VWf) Laboratory Findings Long BT and a long PTT Normal results on screening tests do not exclude the diagnosis of VWD if the history is suggestive of a muco-cutaneous bleeding disorder, VWD testing should be undertaken. Treatment It is directed toward increasing the plasma level of VWF & Factor 8. Current replacement therapy uses plasma-derived VWF containing concentrates that also contain factor VIII. Dental extractions and sometimes nosebleeds can be managed with both DDAVP & anti fibrinolytic agent. -(Immune Thromboctopenic Purpura) ITP 1\. When thrombocytopenia isolated and very low\-\-- ITP is most likely diagnosis 2\. If mucosal bleeding &/or platelets are less than 20.000-30.000, needs action: Hospitalization Steroids IVIG Anti D Bleeding disorder characterized by isolated low platelet count (Plts. \< 130 - 150 x 109 /L) 1--4 wk after exposure to a common viral infection, an autoantibody directed against the platelet surface develops. Antiplatelet antibody that binds to the platelet surface and enhances its destruction in the spleen and liver. Clinical Manifestations The classic presentation is that of a previously healthy child who has sudden onset of generalized petechae and purpura. Often there is bleeding from the gums and mucous membranes, particularly with profound thrombocytopenia (platelet count \