Block 1 Diseases Flashcards
Amyloidosis
increase in the number of misfolded proteins
Alzheimer’s
Beta-amyloid plaques (extracellular) & tau/neurofibrillary tangles (intracellular)
usually age 60+
If under 40 its associated with Down’s syndrome
Huntington’s (ages 30-50) “HUNT Deer, Pheasants, & Caribou Forget CAGes”
Defective polyglutamine leads to the accumulation of dopamine and a decrease in GABA & Ach
Causes issues with choreiform (jerking) movement, facial grimace, and CAG repeats
CJD Prion disease (ages 50-70) “Pussy’s Prrs SEem Calm”
Due to a mutated PrPr gene that causes spongiform encephalitis
Parkinson’s (60+) “PPB”
Causes Resting pin-roll tremor & Bradykinesia
A deficient alpha-synuclein protein leads to Lewy bodies and the degradation of dopaminergic neurons
Scurvy “SCurvy Prompts Lemon Consumption”
Due to vitamin C deficiency,
It causes :
A decrease in propyl and lysyl hydroxylase,
Bleeding gums, poor wound healing, weak bones, parafollicular (epidural hematoma) bleeding, & deformed children
Cystic fibrosis “CRAPPErS”
Due to misfolded CFTR, which “tricks” the polyubiquitination tags to attach and cause proteasomes to degrade it too early
Look for:
Abnormal Cl- balance, lung infections, pancreas insufficiency, and early meconium
Use the sweat test to diagnose
Alport Syndrome (hereditary nephritis) “Alport eXpresses 4 Mutations, HODA”
X-Linked dominant disease that causes:
Hematuria
Ocular lesions
Deafness
Abnormal basement membranes
Menkes syndrome (3yrs) X-linked recessive “My PACkeD CELO”
A deficient P-type ATPase that binds copper causes high levels of copper in the intestines and inhibits its reabsorption causing
a deficiency in cross-linking collagen + elastin via copper-dependent lysyl oxidase
look for:
Mental retardation + signs of abnormal collagen (saggy skin, brittle/KINKY gray hair)
DEATH HAPPENS BY 3YRS OLD (TYPICALLY)
Ehler Danlos Classical (ED Can Have 5 Extra Hyper Mutations) vs. type 2 (ED = 3CPR)
Classical effects type V collagen and causes; hyperflexion, hyperextensible skin, & mitral valve prolapse.
Type 2 affects type III collagen and causes rupture of major blood vessels and a higher risk in pregnancy.
Marfans syndrome “FAT LADS HuM”
It affects fibrillin and causes; arachnodactyly, scoliosis, tall height, mitral valve prolapse, aortic dissection, hyperflexible joints, & lens dislocation
I-cell disease “LIMP CHaF” Autosomal recessive
Deficient phosphotransferase (no M6P) causes; mistargeted lysoenzymes, and lysoenzymes in the blood
I-cell disease presents with failure to thrive, coarse facial features, hepatomegaly, limited mobility, elevated plasma lysosomal enzymes, and vacuolization of cultured fibroblasts.
Hunter’s disease “His AGgressivenesS Loses Her Interest” X-linked recessive
Deficient iduronate sulfatase causes; accumulation of heparan & dermate, aggression, and difficulty learning
developmental delay, hepatosplenomegaly, and skeletal problems
breakdown of glycosaminoglycans
Hurler’s disease “Clouds HIDe Harsh Changes”
Deficient iduronidase causes; accumulation of heparan & dermate, and corneal clouding
coarse facial features, developmental delay, skeletal problems
breakdown of glycosaminoglycans
AG + Blurry vision =__________ hint is “BAG VAM”
Methanol ingestion
Causes of Lactic Acidosis “LAzy CROCS CHIl”
Cardiac + Respiratory failure
CO poisoning
Sepsis
Cyanide
Hepatic failure
Ischemia (esp small bowel)
AG + Oxalate Crystals/ Wood Lamp’s Fluerescence “AGed + COloured Wood = Glows”
Glycol use (ethylene)
Osteogenesis Imperfecta “1 chance for BDSM”
Defective type I collagen & abnormal fibrils causes;
Blue sclera
Dental issues
Sensinurial hearing loss
Many fractures
