CLINICAL CORRELATES Flashcards
synthesis of alpha chains is decreased or absent
alpha thalassemia
glutamate is replaced by valine at position 6 of B globin chain causing hemoglobin that polymerizes inside the RBC
Sickle cell anemia
spectrin deficiency causes spherical RBCs that are rapidly culled by the spleen
hereditary spherocytosis
blue sclera, multiple fractures, conductive hearing loss
osteogenesis imperfecta
berry aneurysms, hyperextensible skin, hypermobile joints, tendency to bleed
Ehlers-Danlos syndrome
loose teeth, sore spongy gums, poor wound healing, petechiae on skin and mucous membranes
Scurvy
hereditary nephritis with sensorineural hearing loss
Alports syndrome
aortic dilatation, dolichostenomelia, arachnodactyly
Marfan’s Syndrome
panacinar emphysema and liver failure
Alpha 1 Antitrypsin deficiency
hepatolenticular degeneration from accumulation of copper in tissues with low levels of ceruloplasmin
wilsons disease
musty body odor mental retardation, fair skin, eczema
Phenylketonuria
urine turns black upon standing associated with debilitating arthralgias
Alkaptonuria
decreased pigmentation that increases the risk for skin cancer
Albinism
atherosclerosis, lens subluxation, stroke, MI, osteoporosis, tall stature
Homocystenuria
staghorn calculi due to inherited renal tubular amino acid transporter
Cystinuria
mental retardation from blocked degradation of branched amino acids
MSUD
photosensitivity, chronic inflammation to overt blistering and shearing in exposed areas of the skin due to defects in heme synthesis
Porphyrias
protein deprivation that is relatively greater than the reduction in total calories
Kwashiorkor
caloric deprivation is relatively greater than the reduction in protein
Marasmus
alcohol leads to fat accumulation in the liver
FATTY LIVER
Cerebrohepatorenal syndrome
ZELLWEGERS SYNDROME
Accumulation of phytanic acid
REFSUM DISEASE