Week 4 Flashcards
Describe lactose intolerance
There is a deficiency in the brush border lactase enzyme resulting in undigested lactose
What happens to the lactose that is left over in lactose intolerance?
There is an increase in SCFA and hydrogen gas which is formed into acetate, butrate, and propionate which causes water to remain in the lumen giving the patient osmotic diarrhea. The methane and H+ gas is fermented and creates flatulence
______ ________ is the result of a deficiency in the pancreatic enzymes, specifically the lack of trypsinogen
Chronic pancreatitis
If there is an absence of trypsin, what is this called and what happens to all of the other pancreatic enzymes?
Congenital trypsin absence All the pancreatic enzymes are gone
_______ is the defect in transport (SLC3A1) or absence of dibasic AA transporter (SLC7A9) which does not allow cysteine, lysine, arginine, or ornithine to be absorbed in the proximal tubule
Cystinuria
What is Hartnup disease?
An issue with the neutral amino acid transporter
What are some of the symptoms of Hartnup disease?
diarrhea, mood changes, neurological problems, red scaly rash, photosensitivity, short stature, high neutral amino acids in the urine
Describe cystic fibrosis
There is a deficiency in the Cl channels on the apical membrane of duct cells, which result in decreased HCO3 secretion
Describe a gluten allergy
Your body creates Abs against a component of gluten, which causes the destruction of small intestine villi and hyperplasia of the intestinal crypts. causes abdominal pain, constipation, diarrhea, weight loss, vomiting, nausea, and steatorrhea
_______ is the impaired absorption of lipids, which causes the fat to be excreted in the poop
Steatorrhea
______ ______ is the failure to secrete proper amounts of pancreatic enzymes
Pancreatic insufficiency
_______ ______ ________ is due to a gastrin secreting tumor of the pancreas that increases the H+ secretion from the gastric parietal cells causing a lot of acid to be present in the duodenum
Zollinger Ellison syndrome
Pancreatitis is when the pancreatic enzymes, specifically trypsin is activated and ______ the pancreas
self digests
What are some factors that can cause deficits in bile salts?
Ileal resection SIBO
Describe what happens in SIBO
the bacteria deconjugate the bile salts and impairs micelle formation which leads to the bacterial overgrowth in the intestinal mucosa.
A pt presents with abdominal pain, distention, gas, and diarrhea. The patient describes the diarrhea as “very greasy and slick”. You do a breath test and detect excess methane and H+. What is your diagnosis?
SIBO
If there is a vitamin B12 deficiency, what is likely to occur?
Pernicious anemia or possibly microcytic or megaloblastic anemias
________ ________ is a common cause of pernicious anemia where there is chronic inflammation of the stomach mucosa, which leads to the loss of parietal cells
Atrophic gastritis
______ _______ ______ ______ is a common cause of pernicious anemia and is when the immune system attacked the intrinsic factor protein or the gastric parietal cells themselves
Autoimmune metaplastic atrophic gastritis
What are surgical procedures that can impeded the absorption of B12?
Gastrectomy- no parietal cells Gastric bypass-no space for absorption
What does cholera do to the Cl secretion and how?
It increases it by increasing the cAMP which causes secretion of Na and H2O causing massive secretory diarrhea
An infant is brought to the pediatrician by his parents because they are concerned about the of his skin and general behavior changes. They report that he has seemed more tired and weak with his arms just flopping down by his side instead of him reaching for his toys. The parents are known to be first cousins. What is likely the diagnosis?
Crigler Najjar
In Crigler Najjar, what is the form of bilirubin that is in excess?
Unconjugated
In Crigler Najjar, there will be unconjugated hyperbilirubinemia, but there will be low levels of hepatic ______ _______
bilirubin glucose
Differentiate between Crigler Najjar type 1 and type 2
Type 1 is the complete inactivation or absence of UGT1A1 Type 2 is a mutation in the UGT1A1 coding region
UGT1A1 also metabolizes ______ _______ drugs
anti-cancer
What are the symptoms that are seen in Crigler Najjar syndrome?
Neonatal jaundice Sepsis Hypotonia Kernicterus jaundice oculomotor palsy
Describe kernicterus
There is an increased bilirubin deposition in the brain with poor development and mental function can lead to mental retardation and deafness
What are treatments of Cigar Najjar syndrome?
Plasmapharesis
Phototherapy
Phenobarbital
UGT1A1 Inducer
Liver transplant
A 24-year-old third-year medical student is two weeks into her first surgery rotation when her senior resident tells her that her eyes look a little yellow. She experienced her first needle stick injury in the operating room just one week earlier and begins to worry about hepatitis. Other than rarely having the time to eat at work, she has no other complaints or symptoms. What is likely the diagnosis?
Gilbert’s syndrome
Gilberts syndrome is a hereditary _______ hyperbilirubinemia
unconjugated
Where is the defect in the UGT1A1 gene in Gilberts syndrome?
Gene promoter
Where are the defects in the UGT1A1 gene in Type 1 and type 2 Crigler Najjar syndrome
Type 1 is a mutation in the open reading frame Type 2 is the coding region of the gene
What inheritance is typically seen in Gilbert’s disease?
Gene promoter for UGT1A1
What does the gene mutation in Gilberts syndrome cause? Which enzyme has an issue?
Decreased UDP glucuronyl transferase activity due to lower expression of the wild type enzyme decreased bilirubin uptake
Most of the patients with Gilberts syndrome are asymptomatic, but if they do have symptoms what will the symptoms be?
Mild jaundice Associated with fasting, stress, infection, alcohol intake
Gilberts syndrome is uncinjugated hyperbilirubinemia without any evidence of _______ or _______
hepatitis or hemolysis
If you were wanting to test a patient for Gilberts disease, what test would you use?
Fasting test and Rifampin tests
Describe the Rifampin test
Unconjugated bilirubin rises after a dose of Rifampin in patients with gilbert syndrome, the rise in bilirubin will be present for a linger time
What medications from people with Gilberts syndrome avoid?
Irinotecan
A 22-year-old motorcycle accident victim with unknown past medical history is brought into the ED with severe head injuries. He is stabilized and brought to the surgical ICU where he is deemed to be brain dead by both the intensivist and neurosurgery staff. The organ transplant team is contacted and determine that he is an eligible kidney donor. However, he is not eligible for liver donation. Upon entering the abdomen during harvest, the team notices that his liver is black. What is likely the diagnosis?
Dubin-Johnson syndrome
Dubin Johnson is a mutation in ______ and Rotors syndrome is a mutation in ______ and ________
MRP2 OATP1B1 and OAT1B3
In Dubin Johnson and Rotors syndrome, there is a ________ hyperbilirubinemia
conjugated
In _____ _______ ______ the liver is grossly black because of the impaired excretion of epinephrine metabolites
Dubin Johnson syndrome
Describe the liver in Rotors syndrome
She’s normale
What are some common lab findings in Dubin Johnson and Rotors syndrome?
May have direct (conjugated) hyperbilirubinemia coproporphyrin III: coproporphyrin ratio is 1:3 to 1:4
What are the total urine coproporphyrin levels in Rotors syndrome and DJS?
Rotors will have elevated coproporphyrin levels and are NORMAL in DJS
Impaired UDP-Glucuronosyl Transferase (UGT1A1) activity is observed in all of the following except:
A. Breast Milk Jaundice
B. Physiological Jaundice of the newborn
C. Crigler Najjar Syndrome
D. Dubin-Johnson Syndrome
D
A patient presents to her physician for unsteady gate, forgetfulness, and recent episodes of Turret-like spells where she will fling one arm out and above her head seemingly unprovoked. On physical exam, the neurologist notices that her irises appear multicolored with concentric rings around the periphery. He is concerned for a metabolic disease and orders several laboratory and radiologic studies. What is likely the diagnosis?
Wilsons disease
Describe Wilsons disease?
Free copper accumulation in many tissues because of a mutation in the ATP7B:
Copper cannot enter circulation because it cannot bind to ceruloplasmin free radicals that can damage tissues
Where does the copper accumulation typically occur in patients with Wilsons disease?
Liver
Brain
Cornea
joints
What is the defect in Wilsons disease?
There is a transmembrane P-type ATPase is encoded by the ATP7B gene that pumps copper into the bile and plasma
If this is defective, it is not able to pump the copper as it needs to and she builds up
What are common neurological symptoms that present in a patient that has Wilsons disease?
Parkinson like symptoms
Hemiballismus: flailing ballistic undesired limb movements
Dementia
The parkinson like symptoms in wilsons disease is secondary to copper deposits in the _______
putamen
The Hemiballismus like symptoms in wilsons disease is secondary to copper deposits in the _________
subthalamic nucleus
The dementia like symptoms in wilsons disease is secondary to copper deposits in the _________
cerebral cortex
Explain what will likely be seen in the physical examination in a patient with Wilsons disease
Cirrhosis of the liver
Kayser-Fleischer rings in the eye
A patient comes into the clinic and you run lab work. You find that there is a decreased serum copper, increased serum non-ceruloplasmin bound copper, increased urine free copper, and evidence of hemolytic anemia. What is likely going on with the patient?
Wilsons disease
List some of the treatments that can be used for wilsons disease?
Copper chelating agents: penicillamine,
tridentine Ammonium tetrathiomolybdate: facilitates urinary excretion of copper
Zinc: competes with copper for absorption in the gut with the same transporter (ATPB7)
Wilsons disease leads to risk factors for ______, ________, and ________
Hepatitis, Cirrhosis, and hepatocellular carcinoma (HCC)
Hemachromatosis is the accumulation of _______ in the liver, heart, pancreas and skin
Iron
What are the symptoms of Hemachromatosis?
Cirrhosis
heart failure
DM
bronzed skin
malabsorption
If there is a prehepatic portal HTN, what is likely present?
Portal vein thrombosis
If there is an intrahepatic portal hypertension, what is likely the cause?
Liver cirrhosis from HH or wilsons
If there is post hepatic portal hypertsnsion, what is likely the cause?
Thrombosis in the hepatic vein and IVC
This can be the result of a GALT deficiency, galactokinase deficiency, fructokinase deficiency, and a aldolase B deficiency
Galactosemia
Describe classic galactosemia
GALT is deficient
Pt will have cataracts, hepatomegaly, jaundice, and failure to thrive
Describe what would happen in the fructokinase deficiency?
Fructosuria: high concentration of fructose in the urine
Describe what would happen in the event of an aldolase B deficiency?
There is a hereditary fructose intolerance because the aldolase is not able to cleave fructose 1 phosphate into DHAP and G3P There is damage to the liver and kidney
In an aldolase B deficiency, which lab values will be low?
Phosphurus and glucose
A ______ ________ deficiency is an autosomal recessive that conflicts with the conversion of OXA to PEP
PEP carboxykinase deficiency
If there is an inability of OXA to convert to PEP, what can result?
acidemia
hypoglycemia
Loss of muscle tone
Liver enlargement
Failure to thrive
_____ _______ disease is an autosomal recessive disease that is due to a G6Pase deficiency where glucose is not able to get into the blood
Von Gierke disease
What are common symptoms of Von Gierke disease?
Fasting hypoglycemia
Lactic acidosis
Hepatomegaly
Hyperlipidemia
A 4 day old female child with yellow skin and eyes . The baby was born at term by a normal vaginal delivery. Pregnancy was uncomplicated; there were no risk factors for sepsis and no history of maternal alcohol or drug use. The baby is breast fed and has been nursing every 2 hours, about 10 minutes at each breast. The bilirubin level is 15 mg (unconjugated) , the hematocrit is 45% and the combs test is negative. Which of the following is the most likely diagnosis?
A. Congenital biliary atresia
B. Isoimmune hemolytic disease
C. Crigler-Najjar syndrome
D. Breast milk jaundice
E. Breast feeding jaundice
E
A 14-year-old Caucasian male patient found to have low serum copper, high urine copper, and low serum ceruloplasmin is placed on penicillamine for management of his genetic disorder. Which of the following is LEAST consistent with this patient’s clinical picture?
A. Kinky, easily breakable hair
B. Cirrhosis
C. Hemiballismus
D.Corneal deposits
E. Parkinson-like symptoms
A. kinky easily breakable hair
An infant who was healthy at birth is brought to your office for her first office visit at the age of 6 weeks. You notice that the infant is jaundiced and that there is bilirubin staining of the wet diaper. Which one of the following diagnoses is most consistent with these findings?
a. Physiologic jaundice of the newborn
b. Hemolysis secondary to Rh incompatibility
c. Crigler-Najjar syndrome
d. Gilbert’s syndrome
e. Biliary atresia
e
__________ is in the peripheral tissue and converts testosterone to DHT
5 (alpha) reductase
What is the rate limiting step in the biosynthetic pathway of androgens?
Conversion of cholesterol to pregenolone
_________ is the lack of descent of the testicles
Cryptorchidisim
At puberty, what does testosterone do to the body?
Increased muscle mass
pubertal growth spurt
closure of the epiphyseal plate
growth of the penis and seminal vesicles
deepening of the voice
spermatogenesis
libido