Inborn Errors, Gallbladder and Exocrine Pancreas A&P, Pathophysiology Flashcards
what is inflammation of the pancreas
pancreatitis
what is pancreatitis associated with
ETOH
biliary obstruction
trauma
hyperlipidemia
what can increase the risk of pancreatitis
genetic predisposition
smoking increases risk
medication risk
what is typically the cause of acute pancreatitis
d/t obstruction of the exocrine pancreatic juices
also associated with cellular injury (drugs, toxins, infection)
what is chronic pancreatitis
fibrotic destruction with calcifications
associated with ETOH, smoking, recurrent acute pancreatitis
pain with intraductal pressure
What is PKU
phenylketonuria
amino acid metabolism disorder
congenital, autosomal recessive disorder
what is Tyrosine
amino acid
made from phenylalanine - helps to create proteins
needed for neurotransmitters
produce melanin
helps to manufacturing and regulation of hormones
what is hereditary hemochromatosis
congenital abnormality leading to increased iron absorption and overload
HFE gene disorder
autosomal recessive
where is hepcidin made
in the liver to regulate iron levels through change in absorption
what are clinical findings with hemochormatosis
skin pigmentation
diabetes
restrictive cardiomyopathy
cirrhosis and elevated LFTS
fatigue, altered LOC, hypothyroidism, hypogonadism
what is wilson disease
genetic disoder leading to copper metabolism mutation
autosomal recessive
dysfunction of copper transporter gene ATP7B
what is the Kayser-Fleischer ring
accumulation of copper in the eye
what is cholelithiasis
stones form as result of decreased cholesterol, bilirubin and bile acid metabolism
what are the types of cholelithiasis
cholesterol **
pigmented
mixed stones
what is biliary colic
temporary pain d/t stone lodged in duct
most common after fatty meal
