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98 Cards in this Set

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Kid with ortic acid in their urine, megaloblastic anemia, and failure to thrive with normal ammonia levels?
Orotic aciduria = AR defect in orotic acid phosphoribosyltransferase or orotidine 5'phosphate decarboxylase.Tx with oral uridine.
Early recurrent infections of all types with B and T cell deficiency with diarrhea and failure to thrive?
SCID = most common is X linked defect in IL-2 or adenosine deaminase deficiency (excess ATP inhibits ribonucleotide reductase = DNA synthesis prevented = dec WBC count)
Retarded aggressive boys that bit their lips/fingers with gout and choreoathetosis
Lesch-Nyhan = x linked absence of HGPRT = defective purine salvage - can tx the excess uric acid with allopurinol.
Dry skin with increased susceptibility to melanoma and other cancers
xeroderma pigmentosum = endonuclease mutuation - defective nucleotide excision repair = can't fix thymidine dimers caused by UV`
Coarse facial features, clouded corneas, restricted joint movement, and high plasma lysosomal enzymes with death by 8.
I-cell disease = mannose-6 phosphate isn't added to lysosome proteins = secreted out instead of being targeted to lysosome
Recurrent pyogenic infections, partial albinism, and peripheral neuropathy
Chediak-Higashi = AR defect in LYST gene = microtubule polymerization defect = decreased phagocytosis
80% chance of colorectal cancer (always proximal) with no polyps on colonoscopy
Hereditary nonpolyposis colorectal cancer/Lynch syndrome = AD mutation of exonuclease responsible for mismatch repair = microsatellite instability and build up
Infertility, bronchiectasis, and recurrent sinusitis with situs inversus
Kartagener's syndrome = dyneine arm defect = immotile cilia
Hyperextenisble skin, tendency to bleed with easy bruising, and hypermobile joints
Ehlers-Danlos = Faulty collagen synthesis - mostly type III (AD/AR - defect in proteolytic cleavage to tropocollagen) Assoc with berry aneurysm, joint dislocation, and organ rupture
Multiple fractures, blue sclera, hearing loss, and dental imperfections due to lack of dentin
Osteogenesis imperfects = AD mutation in type I collagen = defective alpha triple helix formation. Type II is more severe and fatal.
Progressive nephritis and hearing loss with ocular disturbances
Alport's = X linked defect in type IV collagen (structural component in basement membrane of eyes, kidney, and ears)
Tall with long extremitities, pectus excavatum, hyperextensive joints, long tapering fingers/toes with floppy mitral valve
Marfan's = AD fibrillin defect = no scaffolding for extracellular tropoelastin. Assoc with aortic cystic medial necrosis, berry aneurysm, and subluxation of lenses
Panacinar emphysema with PAS+ globules in the liver and increased risk for hepatocellular carcinoma
Alpha1-antitrypsin defeciency (Co-dominant trait) = no elastase inhibition = no elastin in lungs and buildup of misfolded protein in hepatocytes
Short, fat, and retarded with hyperphagia and hypogonadism that present at birth with hypotonia and poor feeding. Characteristic almond shaped eyes and down-turned mouth.
Prader-Willi = 15q11-q13 microdeletion on the paternal chromosome. Dx with FISH. Tx with limiting food and GH for stature
Retards with seizures that walk like puppets (jerky ataxia) and laugh inappropriately
Angelman's syndrome = 15q11-q13 microdeletion on the maternal chromosome.
Acute loss of central vision due to degeneration of the retinal ganglion cells and axons
Leber's hereditary optic neuropathy = mitochondiral inheritance
Bow-legs, pectus cavinatum, lumbar lordosis, and rachitic rosary due to phosphate wasting at the proximal tubule
Hypophosphatemic rickets = x linked dominant = "vitamin D resistant ricket's"
Short limbs with normally sized head and trunk with an old father
Achondroplasia = AD defect of Fibroblast Growth Factor 3
Bilateral massive kidney enlargement with cysts = flank pain, hematuria, htn, and progressive renal failure
ADPKD = AD defect of APKD1 on chromosome 16. Assoc with polycystic liver disease, berry aneurysms, and mitral valve prolapse
Colon covered with adenomatous polyps after puberty with 100% progressing to cancer
Familial adenomatous polyposis = AD deletion of APC gene on chromosome 5
High LDL levels with severe arherosclersis and tendon xanthomas
Familial hyperlipidemia type IIA = AD defect in LDL receptors on chromosome 19 (homo = LDL of 700 with MI before 20)
Telangiectasia (flat, red marks = capillary dilation), recurrent epistaxis, skin discoloration, and atteriovenous malformations
Hereditary hemorrhagic telangiectasia (osler-weber-rendu syndrome) = AD disorder of blood vessels
Hemolytic anemia with increased MCHC that can be cured with a splenectomy
Hereditary spherocytosis = AD defect in spectrin or ankyrin. Dx with osmotic fragility test
Depression, progressive dementia, involuntary rapid/jerky movements in a patient that's 20-40
Huntinton's = AD trinucleotide expansion of CAG (glutamine) in huntingtin gene on chromosome 4 = caudate atrophy with decreased GABA and ACh
Tumors of the parathyroid, pituitary, and pancreas = often present as kidney stones/stomach ulcers
Wermers, MEN I = AD
Pheochromocytoma, medullary thyroid cancer (calcitonin secreting), and parathyroid tumors
Sipple's, MEN 2A = AD, assoc with ret gene
Pheochromocytoma, medullary thyroid cancer (calcitonin secreting), and oral/GI ganglioneuromatosis with Marfanoid habitus
MEN 2B = AD, assoc with ret gene
Cafe-au-lait spots with axillary freckling, neural tumors (schwann cells, fibroblasts, or neurites) with pigmented iris hamartomas
Neurofibromatosis type I (Von Recklinghausen's disease) = AD defect on long arm of 17. Assoc with skeletal disorders, optic gliomas, pheochromocytomas, and increased tumor risk.
Bilateral acoustic neuromas with juvenile cataracts
Neurofibromatosis II = AD defect in NF2 gene on chromosome 22
Retard with facial adenoma sebaceum, ash leaf spots, retinal hamartomas, seizures, renal angiomyolipomas, and cardiac rhabdomyomas.
Tuberous sclerosis = AD disorder with incomplete penetrance and variable presentation. Assoc with astrocytomas.
Hemangioblastomas in retina/cerebellum/medulla with bilateral renal cell carcinoma and sometime pheochromocytoma
VonHippel-Lindau disease = deletion of VHL gene (tumor suppressor) on chromosome 3 = HIF is always active = angiogenic GF active
Recurrent pulmonary infections, pancreatic insufficiency (with fat soluble vit deficiency), meconium ileus (abd distension and vomitting soon after birth), lack of vas deferens, and failure to thrive
Cystic fibrosis = AR defect in CFTR on chromosome 7 = abnly thick mucous in lungs and GI due to failure of Cl secretion and increased sweat Cl due to reabs failure.
Tx = N-acetylcysteine to loosen mucous plugs
Weakness in the pelvic girdle of a 5 y/o that progresses superiorly. Psuedohypertrophy of the calf muscles and cardiomyopathy
Duchenne's muscular dystrophy = x linked frame shift mutation = deletion of dystrophin gene (muscle anchor)
Weakness in the pelvic girdle of a 20 y/o that progresses superiorly.
Becker's muscular dystrophy = x linked mutation in dystrophin gene
Retards with big nuts, jaw, and ears. Plus autism and mitral valve prolapse.
Fragile X syndrome = x linked trinucleotide repeat in CGG (arginine) that affects methylation and expression of FMR1 gene. Assoc with chromosomal breakage
Staggering gait, frequent falling, nystagmus, dysarthria, high arched feet (pes cavus), hammer toes, kyphoscoliosis, and hypertrophic cardiomyopathy
Friedrich's ataxia = AR trinucleotide repeat of GAA (glutamate) of frataxin gene = mitochondrial dysfunction
Muscle wasting and weakness first noted in face/jaw muscles with severe cognitive problems
Myotonic dystrophy = trinucleotide repeat of CTG (leucine) in DMPK gene
Retards with flat faces, almond shaped eyes, simian crease, ASD, duodenal atresia, increased ALL risk and alzheimers after 35
Down Syndrome = chromo 21 trisomy (95% = nondisjunct, assoc with old moms) = dec AFP and estriol with increased HCG and inhibin A. Nucal translucency on U/S. Most common congenital retardation
Retards with rocker bottom feet, small jaws, low set ears, clenched hands, prominent occiput and congenital heart disease (VSD or valve defects)
Edward's syndrome = trisomy of chromosome 18 = decreased AFP, estriol, and HCG. Death within one year
Retards with rocker bottom feet, small eyes and head, cleft palate, holoprosencephaly (no hemispheres), polydactyly, and congenital heart defects (VSD, PDA, ASD).
Patau's syndrome = trisomy of chromosome 13 = death by 1 year
Retard with small head, epicanthal folds, cardiac abnormalities (VSD), and a high pitched mew
Cri-Du-Chat = microdeletion of short arm of chromosome 5
Retards with elfin facies, hypercalcemia, cardiovascular issues (often aortic stenosis), and well developed verbal skills
William's syndrome = microdeletion on long arm of chromosome 7
Cleft palate, abnormal facies, thymic aplasia (t cell deficiency), cardiac defects, hypocalcemia due to parathyroid aplasia
Microdeletion of chromosome 22q11 = aberrant development of 3rd and 4th branchial pouches = variable presentation = diGeorge if thymic, Velocardiofacial if facial.
Hemolytic anemia due to failure of anaerobic glycoloysis
95% have pyruvate kinase deficiency, 4% = phosphoglucose isomerase. RBC swelling and lysis due to inability to maintain activity of the NA-K-ATPase pump
Neurologic defects with lactic acidosis due to a buildup of pyruvate and alanine
Pyruvate dehydrogenase deficiency - can be congenital or caused by a B1 deficiency (alcoholics). Tx with increased ketogenic aa's = lysine and leucine.
Hemolytic anemia deu to decreased NADPH in RBCs (precipitated by oxidating agents or infection)
G6PD deficiency - xlinked. Most common human enzyme deficiency. See heinz bodies and bite cells.
Hypoglycemia, jaundice, cirrhosis, and vomiting with accumulation of fructose-1-phosphate
Fructose intolerance - AR aldolase B deficiency = decreased phosphate = inhibs glycogenolysis and gluconeogenesis.
Tx by limiting fructose and sucrose intake
Fructose in the blood and urine of an otherwise healthy individual.
Essential fructosuria = AR defect in fructokinase. Benign since fructose can't enter cells but can still be phosphorylated with hexokinase.
Early onset of failure to thrive, jaundice, HMG, infantile cataracts, and mental retardation.
Classic galactosemia = AR absence of galactose-1-phosphate uridyltransferase = toxic accum (galactitol = cataracts)
Tx with no lactose or galactose in diet
Differentiate from Hurler's by lack of coarse facies.
Galactose in blood and urine with infantile cataracts. Presents initially as failure to track objects or develop social smile.
Galactokinase deficiency - AR, relatively mild. Limit galactose in diet to prevent galactitiol accumulation
Bloating, cramps, and osmotic diarrhea after eating pizza
Lactase deficiency - can be AR or due to loss of brush border. Avoid dairy (lactose = galactosyl beta 1,4 glucose)
Tremor (asterixis = flapping with extension), slurring of speech, somnolence, vomiting, cerebral edema, and blurring of vision
Hyperammonemia - acquired (liver disease) or hereditary defect in urea cycle. Inc ammonia depletes alpha-ketoglutarate, inhibiting the TCA cycle.
Tx = limit protein intake. Give Benzoate or phylbutyrate to bind and excrete aa's
Tremor (asterixis = flapping with extension), slurring of speech, somnolence, vomiting, cerebral edema, and blurring of vision with orotic acid in blood and urine and decreased BUN
Ornithine trascarbamoylase deficiency = x-linked. Most common urea cycle diseorder leading to excess carbamoyl phosphate that's converted to orotic acid.
Tx with benzoate (binds aa's)
Mental retardation, growth retardation, seizures, fair skin, eczema, and musty body odor.
Phenylketonuria = AR deficiency in phenylalanine hydroxylast or tetrahydrobiopterin cofactor = increased phenylketones (phenylacetate and phenylpyruvate).
Tx - decrease phenylalanine and increase tyrosine in diet
Dark CT with onchronosis (blue-grey skin), pigmented sclera, debilitating arthralgias and urine that turns dark on standing
Alkaptonuria (ochronosis) - AR deficiency of homogenestic acid oxidase = benign except for possible arthralgias from homogenistic acid buildup
Very high homocysteine in urine with mental retardation, osteoporosis, Marfanoid habitus, lens subluxation, and atherosclerosis
Homocysteinuria - AR defect in cystathionine synthase (quantity or affinity for pyridoxal phosphate) or deficiency in homocysteine methyltransferase.
Tx - decrease methionine, increase cysteine, B12, and B6
Cysteine kindney stones
Cystinuria = AR defect defect in renal transporter for cysteine, ornithine, lysine, and arginine in the PCT of the kidney.
Tx with urine alkalinization via acetazolamide
Severe CNS defects, mental retardation, and death in a kid with pee that smells like burnt sugar
Maple syrup urine disease = AR defect in branched amino acid degredation (Ile, Leu, Val) due to decreased alpha-ketoacid dehydrogenase
Dementia, dermatitis, and diarrhea in a patient with increased tryptophan in their urine
Hartnup disease = AR defect in neutral aa transport on renal and GI cells
Tx - niacin
Severe fasting hypoglycemia with increased blood lactate and uric acid and fatty liver
VonGierke's disease (glycogen storage type I) = glucose-6-phosphate deficiency = can't do glycogenolysis or gluconeogenesis
Cardiomegly and muscle weakness with PAS+ granules in the myocyte. Death by 3.
Pompe's disease = glycogen storage II = deficiency in lysosomal alpha 1,4 glucosidase (acid maltase)
Painful muscle crams and myoglobinuria with strenuous exercise
McArdel's disease (glycogen IV) = deficiency in myophophorylase (glycogen phosphorylase = no glycogenolysis)
Fasting hypoglycemia with dextrin accumulation in hepatocytes and normal blood lactate levels
Cori's disease (glycogen III) = deficiency in debranching enzyme alpha-1,6-glucosidase. Gluconeogenesis is intact.
Peripheral neuropathy with angiokeratomas, heart disease and, sometimes, renal failure
Fabry's disease = X linked defect in alpha-galactosidase A = accumulation of ceramide trihexoside
HSM, aseptic femur necrosis and macrophages that look like crumpled tissue paper
Gaucher's disease = AR defect in beta-glucocerebrosidase = build up of glucocerebroside (most common lysosomal storage disease)
Progressive neurodegeneration, HSM, and cherry red spot on macula with foam cells
Niemann-Pick disease = AR defect in Spingomyelinase = build up of sphingomyelin. Patients die by 3.
Progressive neurodegeneration, developmental delays, and cherry red spot on macula with onion skin lysosomes
Tay-Sachs disease = AR defect in hexosaminidase A = build up of GM2 gangliocide. Patients die by 3.
Peripheral neuropathy, developmental delays, optic atrophy, and globoid cells
Krabbe's disease = AR defect in galactocerebrosidase = build up in galactocerebroside
Central and peripheral demyelination with ataxia and dementia
Metachromatic leukodystrophy = AR defect in arylsulfatase A = build up of cerebroside sulfate
Developmental delay, gargoylism, ariway obstruction, corneal clouding and HSM
Hurler's syndrome = AR defect in alpha-L-iduronidase = build up of heparan sulfate and dermatan sulfate (mucopolysaccharidosis)
Gargoylism, ariway obstruction, corneal clouding and HSM
Scheie's = milder form of Hurler's without the mental retardation
Developmental delay, gargoylism, ariway obstruction, aggression and HSM
Hunter's syndrome = XR defect in Iduronate sulfatase = build up of heparan sulfate and dermatan sulfate (mucopolysaccharidosis)
Lysosomal storage disease ddx for Ashkenazi Jews?
Tay-Sachs, Niemann-Pick, and Gaucher's
Hypoketotic hypoglycemia with weakness and hypotonia due to a toxic build up of long chain fatty acids.
Carnitine deficiency = can't transport LCFAs into the mitochondria - can be primary or secondary due to formation of acylcarnitine adducts
Hypoketotic hypoglycemia with increased levels of dicarboxylic acids
Acyl-CoA dehydrogenase deficiency (impaired beta oxidation)
Pancreatitis, HSM, and eruptive, pruritic xanthomas without atherosclerosis
Type I dyslipidemia - due to lipoprotein lipase deficiency = increased levels of TG, cholesterol, and chylomicrons.
Tx with heparin test to measure levels of enzyme (released from endothelium)
Accelerated atherosclerosis, tendon xantomas and corneal arcus (white or gray opaque ring in the corneal margin)
Type II dyslipidemia - AD absence/defect of LDL receptors = Increased LDL levels
Congenital cause of pancreatitis (lipid buildup)
IV dyslipidemia = elevated blood levels of TG with increased VLDL due to hepatic overproduction
Failure to thrive, steatorrhea, acanthocytosis, ataxia, and night blindness within first few months of life
Abetalipoproteinuria = can't syntheisize lipoproteins due to AR deficiencies in apoB-100 and b-48 = lipids accumulate in enterocytes.
Tx with increased vitamin E
Infertile tall, long-armed man with gynecomastia, female hair distribution and small nuts and possible developmental delay
Klinefelter's (47 XXY) = dysgenesis of the seminiferous tubules and abnl leydig cell function = decreased inhibin and testosterone = Increased LH, FSH, and estrogen
Short webbed neck female without secondary sex characteristics presenting for amenorrhea
Turner's (45XO) = decreased estrogen with increase LH and FSH = streak ovary, preductal aortic coarctation and bicuspid aortic valve
Phenotypically normal male that's very tall with severe acne and normal fertility
1-2% are antisocial
Both ovary and testicular tissue are present with ambiguous genitalia
True hermaphrodites = 46XX or 47XXY
Normal appearing female with testicles in labia majora and a rudimentary vagina without a uterus
Androgen insensitivity syndrome (46XY) = AR defect in the androgen receptor = increased testosterone, estrogen, and LH with normal FSH
Ambiguous genitalia at birth with normal internal genitalia and the development of a penis at puberty
5-alpha-reductase deficiency = can't convert testosterone to DHT - normal testosterone and estrogen with increased/nl LH
Recurrent bacterial infections after 6 months of age with a decrease in all Ig
Bruton's agammaglobulinemia = XR defect in tyrosine kinase gene BTK, blocking B cell differentiation = decreased number of mature B cells with defect in opsonization
Sever pyogenic infections early in life with increased IgM but very little IgG, IgA, and IgE
Hyper-IgM syndrome = XR defective CD40L on T's = inability to class switch
Sinus and lung infections with milk allergies, atopy, asthma, and diarrhea
IgA deficiency due to plasma cell maturation defect (isotype switching defect) = anaphylaxis if given blood transfusion with IgA
Tetany with recurrent viral/fungal infections and truncus arteriosus or tetrology of fallot
DiGeorge's = 22q11 = failure of 3rd and 4th pouch development = Decreased T cells, PTH, and Calcium with absent thymic shadow on CXR
Disseminated mycobacterial infections
IL-12 deficiency = decreased Th1 response = decreased INF-gamma
Coarse facies (broad nose, frontal bossing, retained primary teeth), cold staph abscesses, and eczema
Hyper-IgE (Job's) = Th1's don't produce INFgamma = PMNs don't respond to chemotaxis = increased IgE and eosinos
Candida infections of the skin and mucous membranes
Chronic mucocutaneous candidiasis = T cell dysfunction (Hematogenous spread stopped by PMNs)
Recurrent viral, bacterial, fungal, and protozoal infections that can be treated with a bone marrow transplant. Plus diarrhea and failure to thrive
SCID: most common is XR IL-2 defect but can also be adenosine deaminase deficiency or no MHCII = no T cell activation or increase in adenine which is toxic to B's and T's = only NK cells available to kill things
Cerebellar defects (ataxia), spider angiomas, and IgA deficiency with poor eye smooth persuit
Ataxia-telangectasia = Defect in DNA repair = radiation sensitivity and increased risk of lymphoma/leukemia with decreased IgA and death by 25
Thrombocytopenix purpura, recurrent pyogenic infections, and non-flexor eczema
Wiskott-Aldrich = XR defect resulting in progressive deletion of B's and T's = increased IgE and IgA with decreased IgM
Recurrent bacterial infections without pus and delayed separation of the umbilicus.
Leukocyte adhesion deficiency type I = defect in LFA-1 integrin (CD18) on phagocytes = neutrophilia since they can't exit circulation
Recurrent pyogenic infections by staph and strep with partial albinism and peripheral neuropathy
Chediak-Higashi syndrome = AR defect in microtubulal function (LYST gene) = decreased phagocytosis with giant cytoplasmic granules in PMNs due to defective lysosomes
Increased susceptability to catalase positive organisms like staph, ecoli, aspergillis, klebsiella, candida, pseudamonas, nocardia, and serratia
Chronic granulomatous disease - XR lack of NADPH oxidase - decrease in reactive oxygen species and no PMN respiratory burst. Will see negative nirtoblue tetrazolium dye reduction test.
Tx prophylactically with TMP-SMX or INFgamma