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Cellular Diseases
Cellular diseases
80
Health Care
Professional
08/06/2009

Additional Health Care Flashcards

 


 

Cards

Term

Hereditary Spherocytosis

 

 

Definition

hemolytic anemia, splenomegaly, jaundice, gall stones, hemolytic crisis triggered by infection

 

RBC cytoskeletal membrane defect

mutation in spectrin, ankryrin or protein 4.1

 

spheroidal RBC, unable to deform

Term
Wiskott-Aldrich syndrome
Definition

mutation in WASP

X linked immunodeficiency

 

no WASP=no ARP 2/3 activation

 

actin unable to nucleate and form the weblike stx

 

thrombocytopenia, eczema, recurrent infections

 

Term
Dilated cardiomyopathy
Definition

actin mutation where binds to Z disk

unable to transfer force of contraction

early heart failure

develops CHF, dypsnea, weakness, fatigue, palpitations, pedal edema, m. is enlarging but unable to contract properly

high risk of PE and sudden death

Term
Familial hypertrophic cardiomyopahty
Definition

mutations in myosin II tropomyosin troponin

 

#1 cause of sudden cardiac death in athletes

 

dypsnea, angina, palpitations, syncope, fatigue

Term
Epidermolysis Bullosa simplex
Definition
defect of keratin 5 and 14
Term
epidermolysis hyperkeratosis
Definition
mutation in keratin 1 and 10
Term
epidermolytic planopalmar keratoderma
Definition
mutation in keratin 9
Term
Acanthocytosis/Spur cell anemia
Definition

increased cholsterol in RBCs

 

associated with chronic liver disease; alcoholism

excess cholesterol transferred to outer leaflet produces spur formations, decreasing deformibility

 

hemolytic anemia, increased sequenstration by spleen

Term
Glanzmann's Thrombasthenia
Definition

absence of glycoprotein IIb, a major apatelet specific integrin

 

failure of platelet aggregation

 

excessive bleeding and bruising

Term
malaria
Definition

Plasmodium falciparum

 

infected RBCs express adhesive glycoproteins, will attach to capillaries

 

 

Term

inflamatory bowel disease

 

IBD

Definition

down regulation of epithelial tight junction protein occludin

 

enhanced paracellular permeability,

allows neutrophils to excessively migrate causing inflamation

Term

Pemphigus

pemphigus vulgaris

 

Definition

autoimmune disorder,

anti-desmogelin autoantibodies

 

blistering raw sores on skin and mucous membranes, abnormal movement of fluid within skin, skin pulls apart

Term
Charcot Marie Tooth Disease
Definition

mutation of Connexin 32

 

progressive degeneration of PNS, mm. weakness and atrophy, impairment of deep tendon reflexes

 

foot drop, high stepping gait, high arched foot, hammertoes

Term
Scurvy
Definition

vitamin C deficiency for 20-40 days

fewer H bonds formed in collagen triple alpha helix, makes weak CT

s/s  swollen gums, loose teeth, pinpoint hemmorrhages around hair follicles, gums and nails, slow wound healing, anemia and fatigue

high risk are infants, elderly, smokers, alcoholics and Davey Jones arrggg

Term

OI

Osteogenesis Imperfecta

Definition

mutation of type I collagen

 

gly substitution

 

predisposed to fractures

 

range of severities

 

blue slera, bone fragility, possible deformities, short stature,

Term
Ehlers Danlos Syndrome
Definition

mutation in type I, III and V

 

hyperextensible skin, hypermobile joints

 

at risk for ruptred colon and large aa., corneal fragility and diaphragmatic hernia

 

also can have a mutation in lys hydroxylase, or in the conversion of procollagen to collagen

Term
alport syndrome
Definition

mutation in type IV collagen

 

affects basal lamina,

 

causes nephritis, and deafness, hematuria, proteinuria, HTN

Term
Goodpasture syndrome
Definition

autoimmune disease, autoantibodies to Type IV collagen

 

inflamatory destruction of basal lamina in kidney glomerulus and lung alveoli

 

progressive renal failure

Term
epidermolysis bullosa simplex
Definition

mutaiton in keratin 5 and 14

 

extremely fragile skin, minor mechanical friction or trauma results in significant blistering

Term
junctional epidermolysis bullosa
Definition

mutation in lamins, integrins, hemidesmosomal proteins

 

extremely fragile skin, minor mechanical friction or trauma results in significant blistering

Term
dystrophic epidermolysis bullosa
Definition

mutation in collagen VII

 

extremely fragile skin, minor mechanical friction or trauma results in significant blistering

Term
Achondrogenesis type II
Definition

mutation of type II collagen

 

includes Spondyloepiphyseal dysplasia

Term
kneist dysplasia
Definition

type II collagen mutation

 

drawrfism, enlarged joints

Term
stickler syndrome
Definition

type II or type XI collagen mutation

 

flat facial appearance secondary to underdeveloped facial bones,

Term
campomelic dysplasia
Definition

mutation of transcription factor SOX9

 

decrease in type II collagen results in bent bones, small chest and is often lethal

 

can also see XY sex reversal

Term
achondroplasia
Definition

mutation in FGFR3 tyrosine

 

restriction of bone growth through excessive inhibition of chondrocytes

 

constitutive activation of tyrosine kinase receptor

 

drawfism

Term
Marfan's syndrome
Definition

weak elastic tissue

 

mutation in fibrillin

 

aortic root dilation, lens subluxation, retinal detachment,

 

tall thin stature, arachnodactyly and pectus excavatum

Term
emphysema
Definition

autosomal recessive disease, amplified by smokers

 

dyspnea, hyperventilation, barrel chest secondary to hyperinflation

Term
diabetic neuropathy
Definition

downregualtion of HSPG

 

causes glomerulus basement membrane to thicken, increased collagen and decreased HSPG

 

proteinuria, fluid retention, HTN, renal failure

dialysis pts.

Term
Tuberculosis
Definition

 

inhalation and phagocytosis by alveolar macrophages, microbe can survive for decades and be transported to regional lymph nodes

 

#1 infectious disease killer worldwide

 

s/s--prroductive cough, chest pain, hemoptysis, fever, weight loss, fatigue, night sweats

 

 

Term
Legionnaire's Disease
Definition

spread by aerosal

 

microbe found in water via infected amoeba

 

multiply in the alveolar macrophages

Term

Hyperlipidemia Type IIa

 

Familial Hypercholesterolemia

Definition

mutation in LDL receptor

 

increased plasma cholesterol, increased synthesis of LDL, result of innefective endocytosis

 

increased risk factor of CAD, CVA, present with Xanthomata, Xanthelasmata and corneal arcus

Term
Botulism
Definition

inhibition of acetylcholine release at the neuromuscular junction

cleaves synaptobrevin (v-snare)

 

s/s--flaccid paralysis, constipation, loss of head control, hypotonia and hyporeflexia, resp. difficulties, "floppy baby syndrome"

Term
Tetanus Toxin
Definition

cleaves synaptobrevin (v-snare)

prevents vesicle fusion and release of GABA and glycine (the inhibitory neruotransmitters of motor neurons)

 

s/s--prolonged contraction of skeletal mm., trismus(lock jaw), violent spastic paralysis, pt bites down on spatula when touchinng uvulua

Term
Desmin related myopathy
Definition

mutation of desmin, creating aggregates that interfere with the other filament stx. in the cell

 

misaligned sarcomeres causes m. cell apoptosis and necrosis

 

s/s--progessive m. weakness and atrophy, intestinal obstruction, cardiac failure, resp. failure

Term
Hutchinson-Gilford Progeria
Definition

altered lamin A results in an unstable nuclear envelope

 

causes nuclear pore clustering, progressive nuclear damage and premature cell death

 

s/s--failure to thrive, prominent eyes, alopecia, loss of subcutaneous fat, aged looking skin, joint stiffness, arteriosclerosis by 5 y/o, life expectancy of 13 y/o

Term
Emery Dreifuss Muscular dystrophy
Definition

most common laminopathy

mutation of lamin A/C or Emerin

 

contractures of elbows, ankles, neck, m. weakness and atrophy, conduction defects and arrhythmias

Term
I cell disease
Definition

skeletal, abnormalities, coarse features, restricted joint movements, psychomotor retardation, enlarged liver, spleen and heart valves, life expectancy of 10 y/o

 

absense of M6P tag, causing lysosome deficiency

Term

pseudo-hurler polydystrophy

(mucolipidosis III)

Definition
late onset, survival into adulthood, milder form of I cell disease
Term
gaucher's disease
Definition

most common lysosmal stroage disease

accumulation of glucocerebroside b/c of an enzyme deficiency

 

progressive organomegaly with marrow and CNS infiltration, hypersplenism results in anemia, convulsions, dementia, MR, apnea

Term
hurler's syndrome
Definition

most severe MPS

accumulation of GAGs dermatan sulphate and heparin sulphate because of a deficency in alpha L iduronidase

 

physical and mental retardation, organomegaly, deafness, hirsutism, corneal clouding, death by 10 y/o

Term
Sheie and Hurler Scheie syndrome
Definition

residual enzyme activity alpha L iduronidase

 

milder than hurlers

Term
Hunter's syndrome
Definition

X linked

deficiency of iduronodate sulphatase

 

deafness, decreased IQ, short stature, chronic diarrhea, joint stiffness, hepatosplenomegaly, no corneal clouding, onset at 2-4 y/o, survival to 30s

Term

Sanflippo syndrome

 

Definition

defect in heprain sulphate degradation

 

progressive MR and behavioral problems (aggressive and destructive), hyperactivity, sleep distrubance, hearing loss

Term
Morquio syndrome
Definition

defective degradaion of keratan sulphate

 

keratan sulphate in urine, short stature, kyphoscoliosis, pectus carinatum, deafness, weakness, aortic regurgitaion, normal IQ

Term
Maroteaux-Lamy syndrome
Definition

dermatan sulfate build up

deficiency of arylsulphatase B

 

s/s are similar to Hurler's but pts have a normal IQ

Term
Sly syndrome
Definition

deficiency of Beta glucoronidase

 

many different mutations and variable severity

Term
Chediak-Higashi syndrome
Definition

autosomal disease, rare

 

mutation in CHS1/LYST lysosomal trafficking regulatory protein

 

results in delayed fusion of phagosome with lysosome in leucocytes, autophagocytosis of melanosomes, granular defects in natural killer cells and platelets

 

s/s--albinism, recurrent life threatening infections, mild coagulation defects, variable neruro problems

Term

progressive external opthalmoplegia

(PEO)

Definition

bilateral ptosis, progressive weakening of external eye mm., proximal mm. weakness and wasting

 

mtDNA deletion or multiple large deletions in mtDNA

mutation of pol gamma

can be from mutations in TWINKLE, the gene for mt helicase

Term
alpers syndrome
Definition

AR disease of childhood

 

progressive cerebral degeneration

 

s/s--seizures, cortical blindness, deafness, liver failure and eventual death

mt DNA reduced to 30% with no detectable pol gamma

Term
Kearns-Sayre syndrome
Definition

mtDNA deletions in muscle

 

ragged red fibers secondary to 80% mutated mtDNA

 

s/s--severe progressive external opthalmoplegia, retinopathy, cerebellar ataxia, heart block

Term
Pearson's syndrome
Definition

bone marrow is involved

all tissue has mtDNA with deletions

 

s/s--sideroblastic anemia, exocrine pancreatic failure

 

(sideroblasteic anemia is the abnormal production of RBCs, but body can't put Fe into hemoglobin)

Term

MELAS

(mitochondrial encephalomyopathy, lactic acidosis and stroke like episodes)

Definition

short stature, vomiting, headaches, visual disturbances (stroke like episodes), sensorinerual hearing loss

 

base sub. for leucine mutates tRNA gene

always heteroplasmic

 

maternally transmitted

Term

MERRF

(myoclonus epilepsy and ragged red fibers)

Definition

progressive myoclonic epilepsy and seizures

 

mutated tRNA gene

 

always heteroplasmic

Term

LHON

(leber's hereditary optic neuropathy)

Definition

subacute painless bilateral visual failure

missense mutations in subunits of mt complex 1 (the NADH dehydrogenase)

 

optic n. is the only affected tissue

may be homplasmic

 

maternally transmitted

Term

NARP

(Neruogenic muscle weakness, Ataxia, and Retinitis Pigmentosa

Definition

late childhood or adult onset, ataxia, pigmentary retinopathy

 

mutation in mt complex V (ATP syntahse)

 

always heteroplasmic

maternally inherited

 

leigh syndrome is more severe form

Term

Shingles

 

Varicella Zoster Virus

Definition

dermatomal distribution of paiful vesicular lesions

 

reactivation of latent viral infestation in dorsal root ganglia

Term
Rabies
Definition

viral infection that ascends to CNS along the PNS via dynein

 

s/s--encephalitis, malaise, fever, headache, confusion, agitition, delirium, hallucination, hydrophobia, photophobia, coma, death

Term
Huntington's disease
Definition

AD disease

N terminus CAG repeat expansion

 

causes microtubule destabilizatoin, proteolysis, neuronal cell death

 

s/s--chorea, loss of coordination, unsteady gait, dementia, forgetfullness, death w/in 15 years of onset

Term
Familial motor neuron disease and amyotrophic lateral sclerosis (MND and ALS)
Definition

progressive neuro disorder

 

destruciton of lower motor neurons, m. atrophy and weakness

destruction of upper motor neurons, hyperreflexia, spasticity

 

progressive paralysis, aphasia, aphagia, resp. failure

Term
Alzheimer's disease
Definition

hyperphosphorylated tau

accumulation of NFTs (neurofibrillary tangles) in beta amyloid plaques

decreased funcional microtubules

 

pts will have increased tau in CSF

 

progressive degeneration of cerebral cortex causing dementia

Term
primary ciliary dyskinesia (PCD)
Definition

AR with variable penetrance

 

immotile cilia and sperm

 

s/s--retention of lung secretions, recurrent infection, infertility

Term
Kartagener syndrome
Definition

bronchiectasis, situs inversus, chronic paranasal sinusitis, infertility

 

caused by immotile cilia, total lack of dynein arms or a defect of inner dynein arms

 

50% of pts with primary ciliary dyskinesia have this syndrome

Term
Duchene's muscular dystophy (DMD)
Definition

X linked

framshift insertion/deletions dystophin mutation

 

no detectable dystrophin in mm.

 

gower's maneuver, calf pseudohypertrophy, lordosis, scoliosis,

 

Term
becker's muscular dystrophy BMD
Definition

aberrant but partially functional dystrophin protein

 

inframe insertions/deletions of dystrophin

 

X linked

Term
myotonic dystrophy
Definition

autosomal dominant

 

triplet repeat disorder of CTG, with anticipation of repeat expansion

 

affects myotonin protein kinase, idiopathic

 

s/s--cataracts, frontal balding, atrophy of facial mm., ptosis, weakness in hands, legs, SCMs

Term
facioscapulohumeral MD
Definition
inabiltiy to puff out cheeks, expressionless face, weakness in shoulders, upper arms, scapular winging, sensorinerual hearing loss
Term

LGMD

limb girdle muscular dystrophy

Definition

autosomal recessive laminopathy

 

mutation of any of the sarcoglycans, makes disrupted interacion with dystroglycan protein

 

s/s--similar to DMD, no calf pseudohypertrophy or cognitive impairment, weakness of proximal musculature

Term
congenital muscular dystrophy
Definition

pectoral folds with severe shoulder weakness, resp. insufficiency, contractures, seizures, MR

 

mutation in laminin,

 

imparied myogenesis, synaptogenesis and mechanical stability

Term
Lipodystrophy
Definition

defect in lamin A/C

 

impaired adipocyte differentation

 

accumulation of adipose tissue in face and neck, peripheral m. prominence, defecive lipid metabolism

Term

autosomal dominant leukodystrophy

ADLD

Definition

Lamin B duplicaiton

 

phenotypically similar to MS, slow progressive symmetrical demyelination in CNS

Term
spinal muscular atrophy
Definition

mutation of survival of motor neruon proteins that are found in the Gems of the nucleus

 

causes defective snRNP assembly and defective pre-mRNA splicing resulting in loss of motor neurons, spinal cord and brainstem

s/s--mm. weakness and atrophy, hypotonia, dysphagia,

Term
Gout
Definition

degradaion of purines into uric acid

 

s/s--hyperuricemia, joint inflamation

Term
Zellweger syndrome
Definition

autosomal recessive

 

peroxins don't recognize SKL ser-lys-leu, can't import peroxisomal enzymes, causing VLCFAs to build up in blood and tissue

 

s/s--hepatomegaly, liver failure, m. weakness, hypotonia, hyporeflexia, siezures, MR, dysphagia, prominnet forehead, hypertelorism, large fontanelles death by 12 months

Term

XALD

X linked Adrenoleukodystrophy

Definition

most common peroximal disorder

 

myelin breakdown b/c of a defect in transport of VLCFAs into peroxisomes

 

s/s--spasticity, ataxia, visual loss

Term
Angelman syndrome
Definition

deletion of chr 15, only maternal copy acitve in the brain

 

s/s--hyperactivity, epilepsy, affectionate nature, frequent laughter, severe learning disabilities

Term
cystic fibrosis
Definition

autosomal recessive

mutation of CFTR, protein degraded after ejection from ER

 

s/s--chronic cough, dyspnea, irreversible bronchial dilation, dilated central bronchi, hyperexpansion, mucoid impaction

Term
hyperproinsulinemia
Definition

failure of peptidase cleavage of proinsulin to C peptide

 

causes increased serum proinsulin, resembles NIDDM

Term

 

Sjorgren's syndrome

Definition

autoimmune destruction of lacrimal and salivary glands, anti RNP and anti Golgi antiboidies

 

s/s--dry mouth (Xerstomia), dry eyes (Keratoconjunctivites sicca)

Term
Systemic Sclerosis
Definition

anti centromere and anti golgi antibodies

Calcinosis, Raynaud's phenomenon (spasms of blood vessels in response to cold or stress), Esophageal dysfunction, Sclerodactyly, (thickening and tightening of skin on hands), Telangiectasias (dilation of capillaries causing red maks on skin)

 

C.R.E.S.T.

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