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92 Cards in this Set
- Front
- Back
Bruton's agammablobulinemia (mutation, deficiency, excess, Sx, genetics)
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"Mutation: btk (tyrosine kinase)
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DiGeorge syndrome (deficiency, cause, Sx, genetics)
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"Deficiency: thymus glands (T-cells), parathyroid glands (PTH)
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SCID (X-linked)
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"Mutation: (3 types) IL-2 receptor, ADA, MHC II antigens
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Il-12 receptors, Th1 cell response
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hyper IgM syndrome (Defect, Sx, Ig labs)
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"Defect: CD40L on Th1 cells-->no class switching
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Wiskott-Aldrich (process, Sx, genetics, Ig labs)
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"Process: Progressive B and T cells destruction
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Job's syndrome/hyper IgE syndrome (Defect, Sx)
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"Defect: Chemotaxis. Low IFN-gamma production by Th1 cells-->no PMN response
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Leuckocyte adhesion deficiency type 1 (mutation, Sx)
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"Mutation: LFA-1 integrin subunit (CD18) on phagocytes
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Chediak-Higashi (defect, Sx, genetics)
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"Defect: Bad microtubules prevent phagolysosome formation
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chronic granulomatous disease
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NADPH oxidase defic-->defective microbicidal activity
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Chronic mucocutaneous candidiasis (defect, Sx)
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"Defect: T-cell dysfunction
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Selective Ig deficiency (defect, most common type, Sx)
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"Defect: problem w/ isotype switching --> deficiency in specific class of Ig's
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Ataxia-telangectasia (defect, Sx, labs)
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"Defect: DNA repair defic
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CVID (defect, Sx, age of onset)
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"Defect: B-cell maturation to plasma cells--> low Ig's
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Xeroderma pigmentosum (Defect, Sx/risk, Tx)
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"Defect: nucleotide excision repair --> inability to repair thymidine dimers caused by sun exposure
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HNPCC/Lynch Syndrome (Defect, Sx/risk/genetics/Dx)
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"Defect: mismatch repair
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I-cell disease (type, defect, buildup, Sx, labs)
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"Type: Lysosomal storage disorder
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Kartagener's syndrome (defect, Sx, ass'd with)
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"Defect: dynein mutation --> fucked up cilia
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Ehlers-Danlos (defect, Sx, genetics)
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"Defect: Collagen (usually III) synthesis/processing (multiple types)
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Osteogenesis imperfecta (defect, Sx, genetics)
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"Defect: Abnormal collagen (type I, type II fatal in utero)
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Alport's (defect, Sx, genetics)
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"Defect: Type IV collagen (basement membranes)
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Marfan's syndrome (defect, Sx, genetics)
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"Defect: fibrillin
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Prader-Willi syndrome (defect, Sx, genetics)
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"Defect/genetics: Genetic imprinting. Deletion of normally active paternal allele (ch15 - maternal allele methylated)
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Angelman's syndrome (defect, Sx, genetics
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"Defect/genetics: Genetic imprinting. Deletion of normally active maternal allele (ch15 - paternal allele methylated)
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Hypophosphatemic rickets (defect, Sx, genetics)
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"Defect: Increased phosphate wasting at proximal tubule.
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Leber's hereditary optic neuropathy (defect, Sx, genetics)
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"Defect: Degeneration of retinal ganglion cells
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Achondroplasia (defect, Sx, genetics, ass'd with)
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"Defect: FGF3 receptor
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APKD (defect, Sx, genetics)
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"Defect: APKD1 (ch16) '16 letters in polycystic kidney'
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FAP (Defect, Sx, genetics)
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"Defect: APC gene (ch5) '5 letters in polyp'
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Familial hypercholesterolemia/hyperlipidemia IIA (defect, Sx, genetics)
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"Defect: LDL receptor
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Hereditary homorrhagic telangectasia/Osler-Weber-Rendu (defect, Sx, genetics)
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"Defect: Blood vessels
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Hereditary spherocytosis (defect, Sx, genetics, Tx)
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"Defect: ankyrin or spectrin --> spheroid RBCs
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Huntington's Disease (defect, Sx, brain findings, genetics)
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"Defect: CAG repeats (ch4) 'Hunting 4 food'
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MEN1 (Sx, genetics)
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"Sx: Parathyroid, Pituitary, Pancreatic neoplasias
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MEN2 A (mutation, Sx, genetics)
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"Mutation: ret oncogene
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MEN2 B (mutation, Sx, genetics)
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"Mutation: ret oncogene
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NF1/von Recklinghausen's (mutation, Sx, genetics)
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"Mutation: n-myc (ch17q '17 letters in von Recklinghausen')
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NF2 (mutation, Sx, genetics)
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"Mutation: NF2 gene (ch22 - all '2s')
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Tuberous sclerosis (Sx, genetics)
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"Sx: facial lesions (adenoma sebaceum), ash-leaf spots, cortical/retinal hamartomas, seizures, mental retardation, renal cysts, renal angiomyolipomas, cardiac rhabdomyomas, increased incidence of astrocytomas
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von Hippel-Lindau (mutation, Sx, genetics)
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"Mutation: VHL tumor suppressor gene (ch 2p) --> constitutive activation of HIF --> activation of angiogenic growth factors.
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Cystic fibrosis (mutation, Sx, genetics)
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"Mutation: CFTR gene on ch 7; deletion of Phe 508--> no Cl secretion in lungs, GI tract, no reabsorbtion from sweat
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Duchenne's muscular dystrophy (mutation, Sx, genetics)
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"Defect: dystrophin gene nonsense deletion --> muscle breakdown
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Becker's muscular dystrophy (mutation, Sx, genetics)
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"Mutation: mutated dystrophin gene
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fragile X syndrome (mutation, Sx, genetics)
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"Mutation: methylation of FMR1 gene, CGG nucleotide repeat disorder
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Down's syndrome (genetics, Sx, ass'd with, labs)
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"Genetics: trisomy 21 (maternal meiotic nondysjunction); unbalanced Robertsonian translocation (14:21, 22:21)
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Edward's syndrome (genetics, Sx)
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"Genetics: trisomy 18
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Patau's syndrome (genetics, Sx)
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"Genetics: trisomy 13
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Cri-du-chat (genetics, Sx)
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"Mutation: Deletion of 5p
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Williams syndrome (genetics, Sx)
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"Mutation: microdeletion on 7q (including elastin gene)
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CATCH-22 (genetics, mnemonic, diseases)
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"Genetics: 22q11 deletion-->no 3rd and 4th branchial pouch development
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Vitamin A deficiency (Sx, causes)
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"Sx: Night blindness, dry skin
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Vit A excess (Sx, causes)
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"Sx: teratogenic! Clet palate, cardiac. Arthralgias, fatigue, skin changes, alopecia
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Vit B1 Deficiency (aka, deficiency, Sx, causes)
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"Aka: Thiamine
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Wet beriberi (deficiency, Sx)
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"Deficiency: thiamine (B1)
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Dry beriberi (deficiency, Sx)
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"Deficiency: thiamine (B1)
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Wernicke's (deficiency, Sx)
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"Deficiency: thiamine (B1)
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Korsakoff's (deficiency, Sx)
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"Deficiency: thiamine (B1)
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Vit B2 deficiency (aka, deficiency, Sx)
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"Aka: Riboflavin
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Vit B3 deficiency (deficiency, Sx, causes)
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"Aka: Niacin, nicotinic acid
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Vit B5 deficiency (aka, deficiency, Sx)
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"Aka: PanthenoAte
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Vit B6 deficiency (aka, deficiency, Sx, causes)
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"Aka: pyridoxine
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Vit B12 deficicency (aka, deficiency, Sx, causes)
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"Aka: cobalamin
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Folic acid deficiency (Sx, causes)
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"Sx: Megaloblastic anemia, neural tube defects
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Biotin deficiency
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"Deficiency: Carboxylation: pyruvate carboxylase (pyruvate --> oxaloacetate); acetyl CoA carboxylase (acetyl CoA --> malonyl CoA); proprionyl CoA carboxylase (propionyl CoA --> methlmalonyl CoA)
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Vit C deficiency (aka, deficiency, Sx)
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"Aka: ascorbic acid
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Vit D deficiency (fxn, Sx, causes)
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"Fxn: GUT: Ca and phos absorption; BONE: resorption (high Ca)
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Vit D excess (fxn, Sx, causes, pathophys)
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"Fxn: GUT: Ca and phos absorption; BONE: resorption (high Ca)
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Vit E deficiency (fxn, Sx)
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"Fxn: Antioxidant protecting erythrocytes and membranes
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Vit K deficiency (fxn, Sx, causes)
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"Fxn: Carboxylates clotting factors. Synth'd in gut flora.
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Zinc deficiency (fxn, Sx)
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"Fxn: enzyme cofactor, zync finers (transcription factor motif)
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EtOH excess (biochem, Sx)
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"Relative NAD deficiency (too much NADH) because EtOH dehydrogenase (EtOH to acetaldehyde) and acetaldehyde dehydrogenase (acetaldehyde to acetate) both produce NADH.
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Pyruvate dehydrogenase complex deficiency (Biochem, cofactors, pathophys, Sx, Tx)
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"Biochem: converts pyruvate to aceytl CoA - links glycolysis to TCA
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Fructose intolerance (deficiency/biochem, Sx, Tx, genetics)
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"Deficiency: Aldolase B; no Fructose-1p --> DHAP and G3P, phosphate trapping --> inhibits glucose formation (glycogenolysis, gluconeogenesis)
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Essential fructosuria (deficiency/biochem, Sx, genetics)
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"Deficiency: fructokinase (fructose --> fructose-1P).
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Classic galactosemia (deficiency/biochem, Sx, Tx, genetics)
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"Deficiency: Galactose-1P uridyltransferase (no galactose-1P --> glucose-1P. Backup of galactose-1P --> galactose --> galactctitol (aldose reductase from), which accumulates in lens. Also other toxic backup, making it worse than galactokinase deficiency.
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Galactokinase deficiency (deficiency/biochem, Sx, Tx, genetics)
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"Deficiency: Galactokinase. No Galactose --> galactose-1P. Galactitol (reduced galactose) accumulation -->...
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Lactase deficiency (deficiency, Sx, Tx)
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"Deficiency: Lactase (brush border enzyme, dissacharidase)
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Hyperammonemia (biochem, Sx, causes)
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"Excess: NH4 (depletes alpha-KG--> inhibits TCA)
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Orntithine transcarbamoylase deficiency - MOST COMMON urea cycle disorder (backup/accumulation, Sx, genetics)
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"Deficiency: OTC. Carbomoyl phosphate backup --> orotic acid
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Phenylketonuria (deficiency, Sx, genetics)
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"Deficiency: phenylalanine hydroxylase or tetrahydrabiopterin cofactor (no Phe --> Tyr) --> phenalketones in urine
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Alkoptonuria/Onchronosis (deficiency/accumulation, Sx, genetics)
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"Deficiency: homogentisic acid oxidase, so no breakdown of Tyr --> fumarate. 'Opposite' of PKU. Homogentisic acid backup.
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Albinism (deficiency, genetics)
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"Deficiency: Tyrosinase or tyrosine txport --> no tyrosine to make melanin
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Homocystinuria (3 deficiencies, Sx, genetics, Tx)
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"Deficiency: 1. Cystathione synthase. No homocysterine --> cystathione (-->cysteine). 2. Low affinity for B6 (pyridoxal phosphate) cofactor. 3. Homocysteine methyltransferase (no homocysteine --> methionine).
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Cystinuria (defect, Sx, genetics, Tx)
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"Defective: PCT amino acid transporter (cyteine, ornithine, lysine, arginine)
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Maple syrup urine (deficiency/biochem, Sx, genetics)
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"Deficiency: alpha-ketoacide dehydrogenase --> can't degrade branched aa's (I, L, V) --> ketoacids in the blood, esp Leu.
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ADA deficiency (ADA-SCID) (Deficiency/biochem,
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"Deficiency: Adenosine deaminase (purine salvage pathway)
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Lesch-Nyhan (deficiency, Sx, genetics)
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"Deficiency: Purine salvage pathway. No HGPRT
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Orotic aciduria (deficiency, Sx, Tx, genetics)
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"Defciency: De novo pyrimidine synthesis. Can't convert orotic acid to UMP (orotic acid phophoribosyltransferase or orotidine 5'-phosphate decarboxylase)
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Von Gierke's/GSD type I
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"Deficiency: glucose-6-phosphatase
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Pompe's disease/GSD type II
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"Deficiency: lysosomal a-1,4-glucosidase
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Cori's disease/GSD type III
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"Deficiency: alpha 1,6-glucosidase (debranching enzyme)
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McArdle's disease/GSD type V
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"Deficiency: Skeletal muscle glycogen phosphorylase
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