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77 Cards in this Set
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Fragile X
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Only carrier females can expand the premutation into fullmutation
Carrier males transmit premutations only to their daughters who become carrers with full mutations Carrier Females transmit to sons and daugters: Sons: bilateral macroorchidism Daughters: may or may not have MR due to selective Xinact |
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Genomic imprinting
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differing phenoptypes depending on maternal or paternal origin
Find out how it works |
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Prader Willi
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Paternal Transmission - Genomic Imprinting
Hypogonadism, hypotonia, MR, uncontrolled appetite |
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Angelman
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Maternal Transmission - Genomic Imprinting
Happy Puppet, MR, ataxia, seizure, inappropriate laughter |
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Adult Polycystic Kidney Disease
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most frequent hereditary kidney disorder
Numerous bilateral cysts and destroy renal parenchyma |
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Familial Hypercholesterolemia
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anomalies of receptors of LDL
decreased transport of LDL into cells Earlier onset atherosclerosis, Xanthomas - yellow lesions filled with lipid laden macros |
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Hereditary Hemorrhagic Telangiectasia
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Mormans in Utah
telangiectases if skin and mucous membranes and hemmorage from these lesions |
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Hereditary Spherocytosis
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defects of erythrocycte membrane associated skeletal protein
Spheroidal Erythrocyctes, destroyed in spleen, hemolytic anemia |
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Marfan
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defect of connective tissue, faulty scaffolding
deficiency of fibrillin Arachnodactyly, ectopic lentis, aneuryism of proximal aorta, dissecting aneuryism of aorta, MVP |
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Neurofibromatosis
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Mulitple neurofibromas on skin, Cafe au lait spots, Lisch nodules (iris hammartomas)
mutations in NF1 gene - tumor suppersor gene that codes for GTPase act pro (GAD) that converts active RAS into inactive RAS Increased incidence of Wilms tumor, Leukemia, Rhabdomyosarcoma |
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Tuberous Sclerosis
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glial nodules, distorted neurons in cortex
Seizures, MR, adenoma sebaceum (facial skin lesion consisting of malformed Bv and conn tiss) Assoc: Rhabdomyomas, Renal angiomyoliposa |
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Von Hippel Lindau disease
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Hemangioblastoma or Cavernous hemangioma of the cerebellum, brainstem, retina
adenomas, cysts of organs Inc incid. of Renal Cell Carcinoma; gene - 3p |
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Tay Sachs
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def of hexosaminidase A with consequent GM2 accum
CNS degeneration, blindness, cherry red spot in macula |
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Gaucher
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def of glucocerebrosidase which causes accumlation glucocerebrosidase
Gaucher - enlarged histocyctes with "wrinkled tissue paper" cytoplasmic apperance |
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Gaucher Type I
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adult, 80% of cases
hepatosplenomegaly, erosion of femoral head and of long bones, mild anemia |
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Gaucher Type II
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infantile
severe CNS involvementm death before 1 yr age, no detectable glucocerebrosidase in tissues |
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Gaucher Type III
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juvnile
less severe than type II, viscera, brain |
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Niemann-Pick disease
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def pf sphingomyelinase with consequent sphingomylein accumlation
foamy histocyctes, hepatosplenomegaly,anemia, fever, half of pts with cherry red spot, |
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Hurler syndrome
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mucopolysaccharidoses , def of alpha-L-iduronidase with accumlation of heparan sulfate and dermatan sulfate
progressive deterioration, hepatosplenomegaly, dwarfism, corneal clouding, MR IS AR compared to Hunter with is X-linked Recc |
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Von Gierke disease
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Type Idef of glucose 6 phosphate; glycogen accumalation in liver and kidney
Hepatomegaly and intractable hypoglycemia |
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Pompe disease
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Type II
def of alpha 1,4 glucodiase with accumlation of glycogen in liver, heart, skeletal muscle cardiomegaly, hypotonia, splenomegaly, intractable hypoglycemia |
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Cori
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Type III
def of debranching enzyme amylo 1,6, glucosidase leading to variable accumlation of glycogen |
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McArdle
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Type V
muscle phosphorylase def with glycogen accumlation in skeletal muscle stunted growth, hepatomegaly, hypoglycemia |
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Classic Galactosemia
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def of galatose 1 phosphate uridyl trandferase with accumlation of galactose 1 phosp
failure to thrive, infantile cataracts, MR, cirrohisis, death |
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Galactokinase def galactosemia
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only infantile cataracts
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PKU
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mutaiton of phenylalanine hydroxlase, failure of conversion of Ph to tryosine
high serum conc of ph which cause progressive demylineation, also phenylpyruvic acid accumulate progressive mental deteriotation, blond, blue eyed, musty odor, decreased pigmentation of hair, skin |
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Alkaptonuria
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incomplete metabolism of ph and tyrosine, due to def of homogentisic oxidase
urine that turns black over time, ochronosis - dark pigmentation of cartilage and fibrous tissues, arthritis |
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Maple Syrup Urine disease
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any number of defects that make up branched chain aplha keto acid dehydrogenase
MR, feeding problems, maple syrup urine, high urinary levels of valine, isoleucine, leucine |
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CF
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CFTR gene on chr 7
malfunction of exocrine glands, increased viscosity of muscus, increased chloride conc Pulmonary dis: Pseudomonas Aeruginosa is common cause of death Pancreatic insuff - malabsorption, steatorrhea Meconium ileus - small bowel obs caused by thick viscous meconium |
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Hunter
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less severe than Hurler
def of L iduronosulfate sulfatase with accumlations of heperan sulfate and dermatan sulfate HPSM, micrognathia, retinal degeneration, joint stiffness, mild MR |
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Fabry disease
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def of alpha-galactosidase A with accumlation of ceramide trihexoside
skin lesions (angiokeratomas) on lower trunk, burning pain, febrile episodes |
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Classic Hemophilia (A)
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factor VIII gene
hemmorage from minor wounds, bleeding from oral mucosa , hematuria, hemarthoses |
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Lesch Nyhan syndrome
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def of hypoxanthine-guanine phophoribosyltransferase (HGPRT) with impaired purine metabolism and excess uric acid
gout, self mutilation, aggressive beh, MR, choreoathetosis, spasticity |
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Type I hypersensitivity
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IgE production from B cells which then binds to basophils and mast cells
Subsequent exposure, antigen reacts with bound IgE, then degranulation and histamine release and increases in vascular permeability and peripheral blood eosinophilia Allergic or atopic reactions, ashtma, urticaria(hives) Anaphylatic shock - rapid onset of urticaria, bronchospasm, laryngeal edema Hereditary angioedema - def of C1 esterase inhibitor, serum C4 is low |
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Type II hypersensitivity
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Complement fixing antibodies interact with integral component of target cells. Serum complement is decreases. Antigens are usually BM (Goodpasture) or blood cell mem(Warm antibody autoimmune hemolytic anemia, hemolytic disese of newborn, hemolytic transfusion reactions).
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Antibody dependent cell mediated cytotoxicity
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TypeII
antibody binds and Fc portion brings NK cells to kill |
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Reaction of antireceptor antibodies with cell surface receptor
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(Type II) or Type V
Graves disease - thyroid stimulating Ig reacts with TSH receptors results in glandular hyperplasia and hyperthyroidism |
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Type III
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Antigen Antibody complexes.
Antigen is not integral component of target cells Hageman factor activated Serum sickness, Arthus, SLE, polyartertisi nodisa, glomular diseses |
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Type IV
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tuberculin reaction, contact dermatitis
Delayed Hypersensitivity Tcell receptor of CD4 lymph reacts with antigen presented by macros with HLA class II CTL direct CD8 killin, HLA class I antigens |
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Hyperacute rejection
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Antibody mediated, presence of prexisting antibodies to donor antigens, within minutes, localized Arthus reaction
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Acute rejection
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T cell mediated, days to months after
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Chronic rejection
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Antibody-mediated vascular damge, months to years after
marked vascykar fibrointimal proliferation causing small scarred kidney |
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Graft vs Host
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in BM transplants or whole blood transplants in SCID
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Brutons Agammaglobunemia
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block of maturation of preB cells to B cells due to mutation of tyrosine kinase
Absence of plasma cells, absence of serm Ig, poorly defined germinal centers, recurrent bacterial infections |
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IgA def
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inability of IgA Bcells to mature into plasma cells
occasional anaphhylatic reactions to transfused blood adn infections |
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Common variable immunodef
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failure of terminal B cell maturation causing dec in number of plasma cells and hypogammaglobulemia
recurrent bacterial infections |
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DiGeorge
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CATCH 22
congential T cell def lymphopenia, recurrent viral and fungal infections, tetany from hypoparathyroidism with hypocalemia |
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SCID
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marked def of both B and T cells
adenosine deaminase def(ADA def) Sever infections, malignancy, FTT, GVHD, hypoplasia of thymus and lymphnodes |
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Wiskott Aldrich
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poor antibody response to polysaccharide antigens
eczema, thrombocytopenia, recurrent infection Xlinked, normal total IG |
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Read about AIDS
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83
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SLE
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read about in 86
butterfly rash, ANA, raynaud phen, cotton wool lesions in eye ANA - double stranded DNA - rim pattern ANA - smith antigen BFP with syphilis |
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Progressive systemic sclerosis(scleoderma)
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widespread fibrosis, degenerative changes
ANA anti Scl 70 ANA with anticentromere act - CREST syn - Calcinosis, Raynaund, Esohageal dysfunction, Sclerodactyl, Telangiectasia Hypertrohpy of collagen fibers of subcut tissue - fixed facial appearance, sclerodactyly raynaud phen, |
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Sjogren
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traid of xerostomia, keratoconjuctivitis, and one of the serval connective tissue or AI disease (RA)
Sicca - xerostoma and kertoconj alone involvement of salivary gland - bilaterally involved paratids involvement of lacrimal gland hypergammaglob, ANA - anti SSB |
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Polymyositis
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chronic inflammatory process - proximal muscles of extremity
reddish, purplish rash over areas of face and neck - dermatomyositis inc serum creatine kinase |
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Mixed Connective tissue disorder
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renal involvement is uncommon
arthralgias, Raynaud, esophageal hypomotility, myositis specfic ANA - anti rRNP high titer - speckled nuclear apperance |
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Polyarteritis nodosa
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immune complex vasculitis, fibroinioid necorisis of small and medium arteries
Men hep B or drugs |
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Amyloid
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B pleated sheet config
extracellular, promimate to BM Congo Red - apple green - birefringence |
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Primary Amyloidosis
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derived from Ig light chains (AL protein)
amyloid deposition in heart, tongue, muscle may involve kidney asss with plasma cell disorders - MM, Wadenstrom |
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Secondary Amyloidosis
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deposition of fibrils called AA protein
involves kidney, liver, adrenals, pan, LN, spleen (sago spleen) complication of chronic inflammatory disorder like RA, TB, Osteomy, syphilis, leprosy |
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Portuguese type of polyneurpathy
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amyloid derived from transthyretin - protein that transports thyroxine and retinol
severe peripheral nerve involvement due to amyloid deposits |
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Alzheumer disease
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deposits of A4 amyloid or amyloid B portein
Chr 21 |
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Familial Mediterranean fever
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episodic fever, poly serositis, similar to secondary amyloidosis
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Medullary carcinoma of Thyroid
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amyloid deposits, derived from calcitonin
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DM
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deposits of amyloid in islet cells (amylin or IAPP)
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Senile amyloidosis
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minor deposits of amyloid found at autospy in elderly, dervied from transthyretin
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Dialysis associated amyloidosis
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deposits derived from Bmicroglobulin deposited in joints
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xeroderma pigmentosum
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failure of DNA excision repair
skin tumors |
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Marasmus
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def of all nutrients
occurs with children less than 1yr old deprived of breast feeding loss of muscle and fat, retarded growth |
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Kwashiorkor
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protein def but with adequate calorie intake
retarted growth, muscle wasting but preservation of subcutaneous fat Fatty liver, severe edema, Anemia, Malabs, Depigmented bands with pale streaking of hair |
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Vitamin B1
(Thiamine) |
Dry BeriBeri - peripheral neuropathy iwth resultant atrophy of muscle
Wet BeriBeri - high output cardiac failure, peripheral dialtion of arterioles, AV shunting, hypervolemia, cardiac dilation |
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Wernicke Korsakoff
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Thiamine def and alcoholism
degen changes in brain, hemorrhagic lesions of gray matter and mammillary bodies confusion, ataxia, ophthalmoplegia (triad) confabulation and memory loss |
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Vitamin B12 def
(Riboflavin) |
chronic alcoholics
chelosis, glossitis, corneal vasculatization, seborrheic dermatitis |
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Vitamin B3 def
(niacin) |
diet lack niacin and tryptophan
niacin comp of NAD and NADP pellagram - 3Ds - dermatitis, dementia, diarrhea |
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Vitamin B6 def
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convulsions in infants due to def GABA prod
Chronic alcoholism, INH (TB), homocystinuria, Pyridoxine responsive anemia |
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Vitamin B12
(cobalmin) |
reductoin in DNA replication and cell division
megaloblastic anemia, prominent neurologic dysfunction Caused by malabsorption - Pernicious Anemia - lack of IF to bring in this vitamin; or Chrohn, Dipphyllobothrium latum, blind loop syndrome |
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Folic Acid def
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secondary to intestinal malabs
megaloblastic anemia, no neurologic changes |
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Vitamin C
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defective formation of mesencymal tissue and osteoid matrix
impaired synthesis of hydroxyporline and hydroxylysine defective collagen fibrillogenesis |