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| Term | Definition | |
|---|---|---|
| Cyclical vomiting syndrome | - multiple episodes of severe vomiting with abdominal pain - without other significant abdominal findings, - last a couple hours and are separated by asymptomatic periods. | |
| gold standard confirmatory test for suspected Hirschsprung disease. | Rectal biopsy - as full thickness - rectal suction | |
| Classic galactosemia | - first few days after birth when breast milk or cow's milk formula feeding begins - jaundice, - lethargic and hypotonic. - hepatomegaly, | |
| biliary atresia | - Direct hyperbilirubinemia - elevated alkaline phosphatase (ALP) levels suggest posthepatic jaundice with biliary outflow obstruction | |
| posterior urethral valves | - palpable bladder (midline lower abdominal mass), - oligohydramnios, - a urinary tract obstruction - RX; cystoscopy with primary valve ablation | - cause of potter sequence -Voiding cystourethrogram used to diagnose |
| Congenital meatal stenosis, | - caused by failed regression of the distal urethral membrane - neonates with signs of urinary obstruction, - rx ; meatotomy | |
| Imperforate hymen | - congenital defect - hymen has no opening. - Caused by failure of the central cells of the Müllerian eminence to disintegrate. | - leads to cryptomenorrhea (backup of menstrual blood) at puberty. - hematocolpos - primary amenorrhea - periodic lower abdominal pain. |
| gastroschisis | - intestines herniate freely - through an abdominal defect in the paraumbilical area | - elevated second-trimester maternal serum α-fetoprotein (MSAFP) |
| omphalocele, | - intestines protrude in the midline - through the navel but are contained in a hernia s | - elevated second-trimester maternal serum α-fetoprotein (MSAFP) |
| Treatment of gastroschisis and omphalocele | - wrap the bowel and secure it with plastic wrap immediately after birth until surgical closure of the abdominal wall | |
| Mullerian duct agenesis | - Mullerian ducts fail to fuse | |
| Müllerian ducts Paramesonephric ducts | - pair of embryonal ducts | - give rise to the fallopian tubes, - uterus, - cervix, - upper one-third of the vagina in a female fetus |
| neonate presents with acute-onset bilious vomiting, a mildly distended abdomen, and no gas in the distal small intestine on x-ray | - midgut obstruction, | most likely due to intestinal malrotation. |
| Klinefelter syndrome, | - 47, XXY or 48, XXXY - testicular dysgenesis - decreased serum testosterone. | - Tall/slender frame, - sparse pubic hair, - decreased muscle bulk, - infertility, and gynecomastia. -may have mild learning difficulties, |
| Fragile X syndrome | - An X-linked dominant disease - trinucleotide repeat expansion in the FMR1 (fragile X mental retardation 1) gene. | - intellectual disability, - delayed language development, - long facies, large ears, macroorchidism, - mitral valve prolapse - hyperactivity. |
| Failure to thrive, difficulty feeding, a squeaky (high-pitched) cry and pansystolic murmur heard in left sternal border in a child with dysmorphic features is? | cri-du-chat syndrome. | - Microdeletion of the short arm of chromosome 5 |
| Trisomy 13 (Patau syndrome). | - Low birth weight, - microcephaly (head circumference at the 2nd percentile), - microphthalmia (small orbits) | - polydactyly, - cleft lip and palate, - rocker-bottom feet (convex foot deformity with prominent heel) feet are rounded and curved outward |
| Trisomy 13 (Patau syndrome). | - low PAPP-A, - low beta-HCG, - increased nuchal translucency, | while 2nd -trimester screening (quad screen test) probably would have been normal |
| Trisomy 18 Edwards syndrome | - (trisomy 18). - prominent occiput, - low-set ears, - micrognathia, - clenched fists with flexion contractures of the fingers, - rocker bottom feet, | - congenital heart defects, - horseshoe kidneys - 2nd most common trisomy in live born children |
| Down syndrome | - decreased AFP - decreased free estriol | - increase in β-HCG - increase inhibin A. |
| Ehlers-Danlos syndrome type II | Defective type V collagen - weakness of connective tissue | - affects the joints and skin. - joint hypermobility and subluxation - skin hyperextensibility and fragility, - skeletal abnormalities (e.g., scoliosis). |
| androgen insensitivity | karyotypically male (XY). - female external genitalia at birth or ambiguous external genitalia at birth - breast development during puberty - pubic hair are absent, . variable degrees of virilization during puberty. | - primary amenorrhea and infertility occur (atretic uterus and blind vaginal pouch) -- undescended testes are present |
| Y chromosome | - formation of the testes (instead of the ovaries) from the undifferentiated fetal gonad. | |
| 5α-reductase deficiency | - decreased levels of dihydrotestosterone (DHT). - without DHT, masculinization of the external genitalia cannot occur | - often born with predominantly female external genitalia |
| aromatase deficiency | unable to convert androgens to estrogens. karyotypically female (46 XX) patients are born with ambiguous external genitalia - female pseudohermaphroditism. - normal internal genitalia. | - fail to develop secondary sexual characteristics at puberty - present with amenorrhea (development of ovarian cysts and lack of estrogen activity) - virilization due to increased testosterone (severe acne, hirsutism). |
| rickets. | Defective growth plate mineralization due to vitamin D deficiency | history of exclusive breastfeeding without supplementation. -clinical features of frontal bossing, - beading of the ribs, - widened wrists, - bowing of the legs, and erosion of tooth enamel |
| Phenylketonuria | - congenital disorder characterized by the accumulation of phenylalanine in the central nervous system. | - blue eyes, - pale hair and skin (as tyrosine is a precursor in melanin production), - a musty odor, and seizures |
| Pompe disease -- glycogen storage disease | - lysosomal acid maltase deficiency. - conversion of glycogen to glucose in the lysosome cannot be completed --> glycogen buildup --> toxic to numerous cells, - predominantly skeletal and cardiac muscle cells. | -myopathy, - hypertrophic cardiomyopathy, - macroglossia, - in infants, a failure to thrive. |
| von Gierke disease - glycogen storage disorder | - deficiency of glucose 6-phosphatase (type a disease) - glucose 6-phosphate translocase (type b disease | - massive hepatomegaly , a protuberant abdomen, - puffy cheeks, and a rounded face, - biochemical abnormalities (hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia) |
| newborn has jaundice, poor feeding, diarrhea, cataracts, and hepatomegaly with hypoglycemia – | indicative of galactosemia. | - Type I (classic galactosemia, caused by galactose-1-phosphate uridylyltransferase deficiency), - Type II (caused by galactokinase deficiency |
| infant with developmental delay, regression of achieved milestones , absence seizures decreased eye contact, hypotonia, exaggerated startle response as a result of hyperacusis, hearing loss and bilateral bright red spots on fundoscopy, | Tay-Sachs disease. | deficiency in beta-hexosaminidase A. - Leads to progressive neurodegeneration due to intracellular accumulation of GM2 gangliosides. |
| presence of developmental delay, aggressiveness, and self-injury in a boy with macrocytic anemia, raised creatinine, and hyperuricemia | Lesch-Nyhan syndrome. | X-linked deficit of hypoxanthine-guanine phosphoribosyltransferase (HGPRT - > uric acid build up |
| patient's presentation of Marfanoid habitus, high-arched palate, inferior lens dislocation, kyphosis, hyper-elastic skin, hyper-mobile joints, and possibly intellectual disability | Homocystinuria -Cystathionine synthase deficiency | |
| Cystathionine synthase | catalyzes the conversion of homocysteine and serine to cystathionine, | - vitamin B6 (pyridoxine) is a cofactor. - Deficiency of this enzyme causes homocystinuria. |
| Fludrocortisone | - synthetic mineralocorticoid - strong aldosterone activity | used to treat ; - primary adrenal insufficiency, - 21-hydroxylase deficiency of congenital adrenal hyperplasia, and orthostatic intolerance. |
| female newborn presents with hypotension, clitoromegaly, hyponatremia, and hyperkalemia,. lab testing show ↑ 17-hydroxyprogesterone, ↓ 11-deoxycorticosterone, ↓ corticosterone, and metabolic acidosis (bicarbonate is slightly decreased | 21β-hydroxylase deficiency | |
| central diabetes insipidus | Urine osmolality is typically < 300 mOsmol/kg, and is often < 100 mOsmol/kg in these pts | inadequate ADH secretion |
| Younger children, those with newly diagnosed diabetes mellitus, and those with severe dehydration or acidosis are at particularly high risk for this complication. | Cerebral edema | typically seen in the first 12 hours after the initiation of treatment. |
| patient with a history of several bone fractures presents with signs of precocious puberty and café-au-lait spots. | McCune-Albright syndrome | Typical features include; - precocious puberty, - café-au-lait spots, - polyostotic fibrous dysplasia, - endocrine abnormalities (e.g., Cushing syndrome, acromegaly, thyrotoxicosis). |
| Peripheral precocious puberty | premature onset of secondary sexual characteristics | Etiologies include; - granulosa cell tumors, - Leydig cell tumors, - congenital adrenal hyperplasia, - McCune-Albright syndrome. |
| McCune-Albright syndrome | RX; bisphosphonates, - surgery of pathological fractures, - administration of antiandrogens - aromatase inhibitors in males. | |
| pt's with high fever, respiratory distress, muffled voice, drooling, and tripod positioning | strongly suggest epiglottitis, - HIB - Streptococcus | the tripod position (leaning forward with hands on knees), patients are able to reduce the work of breathing by extending the neck. |
| Croup | inflammation of the larynx and trachea, usually due to parainfluenza virus. - ages six months to 6 years - winter months | - hoarseness, - barking cough, - inspiratory stridor, and a steeple sign on x-ray. |
| Expiratory stridor | suggests obstruction of the trachea. | |
| Inspiratory stridor | suggests obstruction at the level of the larynx | |
| (low-grade fever, stuffy nose) followed by a cough and signs of respiratory distress (i.e., tachypnea, nasal flaring, intercostal retractions, oxygen saturation of 92%) with expiratory wheezes in a child < 2 years old | indicates that this patient has severe bronchiolitis. - RSV | RX; monitoring of oxygen status, supplemental oxygen, and nebulized hypertonic saline. If the patient's oxygen saturation does not improve, CPAP or even endotracheal intubation may be required. |
| epiglottitis | - intubate and give antibiotics. | |
| erythromycin is not recommended for infants < 1 month of age | infantile hypertrophic pyloric stenosis | can be used in > 1 months age |
| complications of pertussis | - scleral hemorrhages, - epistaxis, - abdominal hernias, and pneumothorax. - apnea and secondary infections (e.g., otitis media). | RX; azithromycin |
| Croup treatment and management | Nebulized epinephrine is the immediate treatment of choice for moderate-to-severe croup. | - cool mist and dexamethasone rx for mild to moderate form. |
| child with runny nose, cough, inspiratory stridor at rest, chest wall retractions, and diminished air movement. pt's radiograph demonstrates the classic Steeple sign | Croup - moderate to severe. | |
| presence of blood-tinged stools in a young infant who is otherwise healthy and active should raise suspicion of | protein-induced proctocolitis. | elimination of all dairy, egg and soy products from the mother's diet. if exclusively breastfeed. |
| Acute appendicitis | - fever, - periumbilical abdominal pain that migrates to the right lower quadrant, - nausea, - vomiting | |
| the first-line of therapy for functional constipation | oral administration of osmotic laxatives such as polyethylene glycol for 3–6 days | |
| 11-month-old infant has colicky abdominal pain, nonbilious vomiting, reddish mucoid stools, x-ray shows no free air and an ultrasound which shows a 'target sign' | – all signs of intussusception. mechanical obstruction that leads to bowel ischemia. | ("currant jelly" stools) |
| Hepatitis A vaccination | recommended for all children ages 12–23 months. | Vaccination consists of a series of two shots (second shot 6–18 months after the first shot) |
| 6-year-old boy presents with acute cyclical abdominal pain, nonbilious vomiting, concentric rings of bowel on ultrasound, which is most consistent with intussusception. The recurrence of the episode is suggestive of a pathologic lead point. | Meckel diverticulum is the most common pathological lead point | Surgical reduction |
| intussusception. | - Vomiting (initially nonbilious - “Currant jelly” stool: Dark red stool (resembling currant jelly) - High-pitched bowel sounds -Acute cyclical colicky abdominal pain with legs drawn up, with asymptomatic interval | Air enema: treatment of choice |
| Dubin-Johnson Syndrome | causes direct hyperbilirubinemia | often presents with non-specific symptoms in adolescents, especially after administration of certain drugs (classically oral contraceptives). |
| Gilbert syndrome | - common, inherited indirect hyperbilirubinemia condition - causes mild excess (< 3 mg/dL) of indirect bilirubin (unconjugated hyperbilirubinemia), - scleral icterus (without generalized jaundice), - fatigue | - is not associated with liver damage, AST, ALT, and GGT values are normal. |
| Biliary atresia | rare neonatal condition - progressive fibrosis and obliteration of extrahepatic biliary tree --> cholestasis, jaundice, acholic stools, and dark urine. | jaundice in first week of life complication of liver cirrhosis 9 weeks of age. RX; (hepatoportoenterostomy): |
| saccular or fusiform dilations of the biliary tree or dilated masses that communicate with the biliary tree on imaging | Biliary cysts (or choledochal cysts) can result in cholestatic jaundice . if left untreated, increases the risk of cholangitis and cholangiocarcinoma. | Clinical features in affected infants; - jaundice, - acholic stools, - hepatomegaly, - a palpable mass in the right upper quadrant |
| pt initially had fever, sorethroat, aches (flu) and now presents with signs and pneumonia (fever, productive greenish sputum, infiltrate on chest x-ray), suggesting bacterial superinfection. | Streptococcus pneumoniae is the most common cause of post-influenza bacterial pneumonia overall | |
| post-influenza bacterial superinfection | Staphylococcus aureus is one of the most common causes | should be suspected if pts; - severely ill on presentation (e.g., hypoxemia, high fever, elevated WBCs) - or have multiple cavitary lesions on chest x-ray. - bacterial pneumonia symptoms within 2–3 days of onset of viral symptoms. |
| child presents with no fever, acute onset cough and shortness of breath and has unilateral wheezing and reduced air entry along with hyperlucency of the lung fields on chest x-ray | indicate a foreign body aspiration (FBA) with ball-valve foreign body obstruction. | Bronchoscopy |
| newborn presents with bilious vomiting, a distended abdomen, and sparse bowel sounds (suspicious of bowel obstruction), dilated small bowel loops on abdominal x-ray and a microcolon | meconium ileus (soap bubble appearance) result of meconium mixing with swallowed air | Treatment Enema with a contrast agent Surgery is required in complicated cases (e.g., intestinal perforation, volvulus) |
| patient has both recurrent upper respiratory infections (and subsequent nasal polyposis) and signs of pancreatic insufficiency (steatorrhea and malabsorption) with resulting failure to thrive | presentation suggests cystic fibrosis. | Complications - meconium ileus, - chronic respiratory infections leading to bronchiectasis, - pancreatic insufficiency, - obstructive azoospermia in males. from congenital bilateral absence of vas deferen |
| patient has recurrent episodes of epistaxis and telangiectasias of the lips, nose, and fingers, GI bleeding | Osler-Weber-Rendu syndrome Hereditary hemorrhagic telangiectasia - autosomal dominant | commonly presents with nosebleeds but can also cause acute or chronic bleeding from the GI tract, requiring blood transfusions and iron supplementation. |
| asymptomatic patient with a positive IFN-γ release assay or tuberculin skin test, | treatment for latent TB infection is indicated if high-risk factors for TB (e.g., immigration from a highly endemic region within the last 5 years) are present | regimen for treating latent TB among children is a 9 month course of isoniazid + Vit B6 |
| visible pink nasal mass in an adolescent boy with a history of nasal obstruction and recurrent epistaxis is highly suggestive of . | juvenile nasopharyngeal angiofibroma | A CT scan is the investigation of choice to confirm the diagnosis RX;Surgical excision of the tumor |
| asthma | - low FEV1, low FEV1/FVC. - intermittent non productive cough - reversible cough, wheezing, and dyspnea. | in severe asthma exacerbation that does not respond to initial treatment with bronchodilators. - intubate immediately with mechanical ventilation. |
| Osteonecrosis of the femoral head Avascular necrosis of the femoral head | - common complication in patients with SCD - manifests between 7–15 years of age. | lack of systemic symptoms |
| Diamond-Blackfan anemia | defective ribosome synthesis that leads to bone marrow dysfunction --> pure red cell aplasia. | short stature, webbed neck, low set ears, small jaw, and triphalangeal thumbs. |
| Fanconi anemia | A hereditary form of aplastic anemia caused by an autosomal recessive | - short stature, - café-au-lait spots, - thumb and forearm malformations, > incidence of acute myeloid leukemia and myelodysplastic syndromes. |
| patient presents with : mildly decreased Hb, decreased MCV, target cells (RBCs with dark center and rim separated by a pale ring), a normal RDW, and increased HbA2 levels. | features consistent with beta thalassemia minor | usually monitored without any additional treatment. |
| A newborn with microcytic anemia, jaundice, hepatosplenomegaly, and hemoglobin DNA testing showing 3 missing alleles | indicates a type of alpha thalassemia. -Hb Barts | |
| Hemoglobin Barts disease | 4 defective α-chain coding alleles result in excessive production of pathologically altered Hb Bart consisting of 4 γ-chains | |
| broad-spectrum antibiotic of choice in patients with sickle cell disease presenting with sepsis | IV ceftriaxone | |
| A history of fevers and bone point tenderness of a bone with an x-ray showing periosteal elevations and sclerotic changes is particularly concerning for | osteomyelitis. SCD predisposes to infection with encapsulated bacteria -Salmonella, an encapsulated bacteria, is | - fever - tender, swollen and erythematous |
| Immediate exchange transfusion is the first-line therapy in SCD patients with | an acute ischemic stroke. | , supplemental oxygen should also be administered to maintain a saturation above 95%. |
| patient's condition may be associated with aniridia, genitourinary (GU) anomalies, and intellectual disability as part of WAGR syndrome. | Wilms tumor Nephroblastoma | 2–5 years of age nontender abdominal mass that does not cross the midline, especially if its surface is smooth, |
| presence of “B symptoms” (subacute fatigue, night sweats, weight loss), nontender cervical lymph nodes, anemia, and thrombocytopenia concerning for leukemia. PCR shows 9;22 translocation | CML | Imatinib |
| patient's history (chronic weakness, painful extremities, fever) and lab findings (marked leukocytosis, thrombocytopenia, and anemia) are suggestive of acute lymphoblastic leukemia (ALL | Bone marrow aspiration and biopsy - definitive diagnostic test for leukemia. | |
| Pilocytic astrocytoma | Cerebellar compression can cause falls and dysdiadochokinesia | The MRI scan shows a large (3.5 cm), well-defined, contrast-enhancing cystic mass in the lateral posterior fossa without ventricular involvement rx ; surgical resection of the low grade tumor |
| Leukocoria | Abnormal white reflection from the pupil (instead of the normal red-eye reflex). | seen in; retinoblastomas, cataracts, retinal detachment, and Coats disease. |
| children who present with leukocoria | should undergo prompt funduscopic examination to rule out retinoblastoma | - Ocular ultrasound and MRI are indicated to detect the size and extent of the tumor. |
| Pts present with swelling and pain that is worse at night and activity, Decreased rom & gait abnormalities, X-ray shows poorly defined lytic-sclerotic tumor at the metaphysis with irregular cortical destruction and an aggressive periosteal reaction | Osteosarcoma | |
| Acute lymphoblastic leukemia | initial treatment will consist of vincristine, glucocorticoids, and asparaginase. | Tdt |
| This child presents with thrombocytopenia, signs of microangiopathic hemolytic anemia (↓ Hb, jaundice, schistocytes), and renal dysfunction (hematuria, proteinuria, ↑ BUN, and ↑ creatinine), | which is a triad indicating hemolytic uremic syndrome (HUS). | HUS is often preceded by a prodrome of vomiting and diarrhe |
| pediatric patients with hemolytic uremic syndrome, indications for hemodialysis | oliguria/anuria, azotemia, hyperkalemia, and acidosis. | |
| Eosin-5-maleimide binding test EMA . | A flow cytometric test used to confirm the diagnosis of hereditary spherocytosis | |
| fatigue, malaise, pale conjunctiva with splenomegaly, normocytic anemia, a positive family history (autosomal dominant in ∼ 75% of cases), an increased RDW, and an increased MCHC. | Hereditary spherocytosis | extravascular hemolysis occurs in spleen - folic acid supplementation is indicated. |
| vitamin K-dependent clotting factors, | factors II (prothrombin), VII, IX, and X | |
| Nephrotic syndrome | massive renal loss of protein (> 3.5 g/day) resulting in edema | - hypoalbuminemia, - hyperlipidemia, - hypercoagulability (antithrombin III deficiency), - increased risk of infection (loss of immunoglobulins). - hypocalcemia (due to vitamin D deficiency |
| Fatty cast | Nephrotic syndrome | the liver increases all synthetic activity (involving albumin as well as other macromolecules, such as lipids) to compensate. - excess lipids are reabsorbed by the proximal tubular epithelial cells --> slough off |
| pt presents with recurrent edema of the face and feet, hypertension, elevated urea nitrogen and creatinine, and urinalysis that shows microscopic hematuria and proteinuria. . Sensorineural hearing loss and an anterior lenticonus in a pt | - features suggest nephritic syndrome Alport syndrome | - genetic defect of type IV collagen. - commonly inherited in an X-linked dominant pattern. |
| diagnosis of Alport syndrome | - confirmed via skin biopsy which reveals the absence of alpha-5 chains in the basement membrane | in case skin biopsy is inconclusive, renal biopsy. |
| Rx Alport Syndrome | Pts with proteinuria should receive ACE inhibitors or angiotensin receptor blockers to slow progression to end-stage renal disease. | |
| presence of edema, 4+ proteinuria on urine dipstick, a protein/creatinine ratio of 6.8, and normal complement concentrations is highly suggestive of nephrotic syndrome, which in children is most commonly caused by | minimal change disease | RX of choice for minimal change disease is oral corticosteroid therapy; prednisone or prednisolone for at least 12 weeks child should receive pneumococcal and influenza vaccination prior to initiating steroid |
| minimal change disease | Edema should be controlled by sodium restriction & careful monitoring of fluid input and output. If complete remission does not occur, higher doses of steroid therapy, immunosuppressive agents, and/or an ACE inhibitor may be needed | |
| effacement of podocytes on electron microscopy | minimal change disease | Also seen in; Focal segmental glomerulosclerosis - characterized by segmental thickened glomerular capillary loops on light microscopy, IgG and C3 deposits in the sclerotic region |
| dark urine, hypertension, edema, and microscopic hematuria with dysmorphic RBC's is indicative of nephritic syndrome. This condition can occur within 3–4 weeks after group A streptococcal skin infections like impetigo. | Poststreptococcal glomerulonephritis 10-30 days after infection | _ subepithelial immune complex deposition - IgG and C3 + antigen Laboratory tests should also reveal decreased levels of C3 complement |
| patient presents with recurrent episodes of gross hematuria that is always associated with pharyngitis. His urinalysis findings are consistent with a glomerular origin of the blood (RBCs with dysmorphic features and RBC casts). | This combination suggests Berger disease. - IgA nephropathy IgA immune complexes deposits in mesangium - glomerulonephritis (type III hypersensitivity reaction). | RX includes; monitoring of kidney function initiation of RX if the disease progresses (e.g., ACE inhibitors for hypertension and/or proteinuria). Immunosuppressive therapy may be indicated in more severe cases |
| boy has features of nephrotic syndrome, i.e., swelling of the face and extremities, hypoalbuminemia, and heavy proteinuria (4+ on urine dipstick), and serology that is positive for hepatitis B. | Membranous nephropathy - frequently occurs in association with hepatitis B, which is more common in some African and Asian countries | - Subepithelial deposits of IgG and complement along the glomerular basement membrane (spike and dome appearance) on electron microscopy |
| Membranous nephropathy Membranous glomerulonephritis | common cause of nephrotic syndrome in white adults - idiopathic or associated with infections (hepatitis B and C), SLE, tumors, or medications. | thickened glomerular capillary loops on light microscopy |
| Membranoproliferative glomerulonephritis | - nephritic syndrome and nephrotic syndrome. - caused by immune complex deposition or complement activation. - associated with Hep B but less common | splitting of the glomerular basement membrane (double-contour or tram-track appearance) on light microscopy. |
| Type 1 renal tubular acidosis | - normal anion gap metabolic acidosis and hypokalemia - inability of the distal convoluted tubule to excrete H+ into lumen | - due to decreased activity of the H+/K+ ATPase antiporter on the apical surface of intercalated cell, - which reabsorbs K+ and secretes H+ into the lumen of the tubule |
| Failure to thrive in an infant with a normal anion gap metabolic acidosis, a urine pH > 5.5, and hypokalemia is | suggestive of renal tubular acidosis type I (Type 1 RTA) - hyperchloremic metabolic acidosis - urine ph is alkalic | - decreased activity of the H+/K+ ATPase antiporter on the apical surface of intercalated cell, - which reabsorbs K+ and secretes H+ into the lumen of the tubule |
| renal tubular acidosis type I (Type 1 RTA) | seen in ; - Sjögren syndrome, - rheumatoid arthritis - hypercalciuria, - drugs such as ifosfamide and lithium | RX; alkalization therapy with orally administered - sodium bicarbonate - or sodium citrate. |
| incidental finding of proteinuria in an otherwise healthy, overweight (BMI ≥ 25–29.9) adolescent is most likely caused by a condition that typically does not affect renal function | Orthostatic proteinuria renal function is not impaired | presents with isolated proteinuria during the day and normal protein excretion at night when the individual is in a recumbent position |
| Capillary refill test | Normal CRT is less than 2 seconds | When peripheral perfusion is poor, capillary refill time increases; may occur; - in shock, - peripheral arterial occlusion, and/or hypothermia. |
| patient's history of gastroenteritis and presentation with restlessness, cool extremities, mild tachycardia, and prolonged capillary refill, he likely has moderate dehydration, which, in combination with fever, likely caused a seizure. | effects that dehydration and volume depletion may have on the infant. - seizure -sunken anterior fontanelle seen in infants and young children - decreased urine output and tears - a dry tongue - decreased skin turgor - sunken eyes, thirst | anterior fontanelle closes at 12∼ 18 months. Before closure, it should always be assessed to estimate volume status |
| Tachypnea | increased rate of breathing. For adults: > 20/min. For children 1–5 years of age: > 40/min; | for children 2–12 months of age: > 50/min; for children less than 2 months of age: > 60 /mins |
| Lead poisoning | - symptoms of encephalopathy (e.g., confusion, memory loss, developmental delay) -constipation -fatigue, weakness, - paresthesias, - microcytic anemia - abdominal pain (lead colic), - gingival hyperpigmentation (Burton line) | chelation therapy; - dimercaptosuccinic acid (succimer) and calcium disodium edetate (CaNa2EDTA) |
| Riboflavin deficiency | can develop among individuals who do not consume ; - dairy products (e.g., pts with lactose intolerance), and ppl who do not eat meats or eggs | increased risk of developing seborrheic dermatitis |
| pt's glossitis, pharyngeal hyperemia, cheilitis, angular stomatitis, and normocytic-normochromic anemia is suggestive of vitamin B2 (riboflavin) deficiency. | increased activity coefficient of erythrocyte glutathione reductase confirms this diagnosis | B2 is a precursor for flavin adenine dinucleotide (FAD) which is a redox cofactor |
| Tracheomalacia | An abnormal collapsing of the walls of the trachea | |
| Tuberosclerosis | nodules in ventricular system Subepindermal giant cell Astrocytoma seizures in less than 1 yrs old hypopigmented nodules Cardiac and Renal Rhabadomyoma Angiomyolipoma intellectual disability | Rx; ACTH or gabagenic agent |
| Seizures in morning | Juvenile and myoclonic epilepsy | |
| Congenital rubella infection | sensorineural hearing loss cataracts, cardiac defects (patent ductus arteriosus). | low birth weight purpura/petechiae blueberry muffin rash hepatosplenomegaly osteitis microcephaly |
| diagnostic of paralytic ileus. | acute nausea vomiting bloating absent bowel sounds uniform gas pattern without air-fluid levels on x-ray seen in opioid, anticholinergic, trauma, abdominal surgery, dm | make the patient NPO place a nasogastric tube for decompression provide IV fluid (and possibly blood product) |
| heparin-induced thrombocytopenia | autoantibodies form against a complex composed of platelet factor 4 (PF4) and heparin. | rx; stop heparin switch to argatroban |
| cysts with central spores on methenamine silver staining | Pneumocystis jirovecii | |
| Hyper IgM | increased risk for recurrent pyogenic infections & opportunistic infection (e.g. pneumocystis, CMV) | defective CD 40 ligand unable to switch IgM production to production of other immunoglobulins |
| Pt with lab values (elevated erythrocyte, granulocyte, and platelet counts), decreased EPO | polycythemia vera Rx; Phlebotomy | Contraindications to repeated phlebotomies; anemia hypotension dehydration acute infections acute emergencies. |
| Dysphagia for solid foods, episodic food impaction, epigastric pain in a boy with allergic disposition (i.e., asthma, food allergy) with linear furrows & circumferential lesions on upper endoscopy | Eosinophilic esophagitis | Rx; Dietary therapy dilation of esophagal strictures |
| Uremic pericarditis | seen in end stage kidney pt who missed dialysis | does not present with the classic diffuse ST-elevations seen on ECG as in other types of pericarditis. |
| infant's ophthalmologic examination revealed areas of nonvascularized retina with tortuous vessels, which are consistent with | retinopathy of prematurity (ROP). | This premature infant likely received supplemental oxygen at birth, |
| 4-year-old boy's combination of delayed walking, reduced muscle reflexes, enlarged calves, and use of the Gower maneuver to stand up | Duchenne muscular dystrophy, an X-linked disorder. | A truncated or absent dystrophin protein dx; tx creatine kinase level (typically elevated), genetic analysis for the dystrophin gene, & muscle biopsy |
| Coryza, cough, and conjunctivitis followed by a maculopapular, blanching, partially confluent exanthem is | measles often leads to dehydration | Vitamin A should be administered to all children with measles because it helps prevent complications such as otitis media, viral pneumonia, encephalitis, or corneal ulceration. |
| Edwards syndrome | ventricular septal defect | trisomy 13 |
| Di George | tetralogy of fallot truncus arteriosus abnormal arch of aorta |
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