3 - Diarrhea Flashcards

1
Q

What is diarrhea defined as?

A

Loose, watery defecation occurring at least three or more times in a day.

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2
Q

What is the primary difference between acute and chronic diarrhea?

A

Acute diarrhea has a sudden onset and lasts for a short duration, while chronic diarrhea lasts for weeks to months to years.

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3
Q

List the four biochemical mechanisms of diarrhea.

A
  • Secretory
  • Osmotic
  • Inflammatory
  • Disordered transit time
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4
Q

What is secretory diarrhea characterized by?

A

Persistent diarrhea despite cessation of oral intake.

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5
Q

What causes osmotic diarrhea?

A

Osmotically active particles in the small intestine pulling water into the gut lumen.

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6
Q

What are some examples of conditions that lead to osmotic diarrhea?

A
  • Lactose intolerance
  • Celiac disease
  • Pancreatic maldigestion
  • Osmotic laxatives (sorbitol)
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7
Q

What are the cardinal manifestations of inflammatory diarrhea?

A
  • Fever
  • Abdominal pain
  • Diarrhea containing blood and mucus
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8
Q

What characterizes dysmotility diarrhea?

A

Altered motility (intestinal transit time) that is either too rapid or too slow.

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9
Q

What common condition can lead to small intestinal bacterial overgrowth (SIBO)?

A

Long-standing type 1 diabetes complicated by damage to the autonomic nervous system.

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10
Q

What is steatorrhea?

A

Diarrhea containing an excess of fatty material.

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11
Q

What does the term ‘malabsorption’ refer to?

A

The gut’s inability to assimilate adequate calories (protein, carbohydrate, fat, minerals, or vitamins necessary to maintain homeostasis).

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12
Q

What is the significance of differentiating pancreatic maldigestion from intestinal mucosal disease?

A

It leads to the correct diagnosis and guides treatment more expeditiously.

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13
Q

What is the clinical presentation of chronic pancreatitis in children typically characterized by?

A

Steatorrhea and weight loss.

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14
Q

What does a fecal fat test using Sudan staining indicate?

A

The presence of fat malabsorption.

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15
Q

What is the principal monosaccharide in our diet?

A

Glucose.

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16
Q

Name some disaccharides found in the human diet.

A
  • Sucrose
  • Lactose
  • Trehalose
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17
Q

What role do ATP-dependent sodium glucose transport proteins (SGLT1) play in nutrient absorption?

A

They facilitate the diffusion of glucose and galactose from the gut lumen into the enterocytes.

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18
Q

Fill in the blank: Diarrhea is a major cause of ______ in resource-poor countries.

A

mortality

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19
Q

True or False: Diarrhea is always the cardinal manifestation of malabsorption.

A

False

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20
Q

What might be misdiagnosed as irritable bowel syndrome?

A

Celiac disease.

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21
Q

What is the role of pancreatic amylase in carbohydrate digestion?

A

It continues the digestion of carbohydrates to maltose, maltotriose, and isomaltose.

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22
Q

What is the term for the inactive precursor of a digestive enzyme?

A

Zymogen.

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23
Q

What are alpha-limit dextrins?

A

Short chain polymers of glucose with branching after incomplete digestion by alpha amylase.

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24
Q

What is the significance of a tissue transglutaminase (tTG) IgA test?

A

It helps investigate the possibility of celiac disease.

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25
Q

What laboratory findings support the diagnosis of malabsorption?

A
  • Anemia
  • Low total protein
  • Low albumin
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26
Q

What enzymes hydrolyze lactose and sucrose?

A

Lactase hydrolyzes lactose to glucose and galactose, and sucrase hydrolyzes sucrose to glucose and fructose.

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27
Q

What are the three simple sugars absorbed in the intestinal epithelium?

A
  • Glucose
  • Fructose
  • Galactose
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28
Q

What is the role of SGLT1 in carbohydrate absorption?

A

SGLT1 facilitates diffusion of glucose and galactose from the gut lumen into the enterocytes.

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29
Q

Which transporter is responsible for transporting fructose into enterocytes?

A

GLUT5

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30
Q

What is the principal transporter for all three sugars moving them from enterocytes into circulation?

A

GLUT2

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31
Q

Where does protein digestion primarily occur?

A
  • Stomach
  • Small intestine
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32
Q

What activates pepsinogen into pepsin?

A

Hydrochloric acid secreted from parietal cells in the gastric mucosa.

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33
Q

What initiates the cascade of pancreatic zymogen activation in the small intestine?

A

Enteropeptidase cleaves trypsinogen to active trypsin.

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34
Q

What are the end products of protein digestion ready for absorption?

A
  • Free amino acids
  • Dipeptides
  • Tripeptides
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35
Q

Where does the absorption of amino acids mainly occur?

A

Duodenum and jejunum

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36
Q

What enzymes generate free amino acids in the intestinal lumen?

A

Brush border dipeptidases

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37
Q

What role do lingual and gastric lipases play in lipid digestion in newborns?

A

They hydrolyze triglycerides to diglycerides and fatty acids.

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38
Q

What is the role of bile salts in lipid digestion?

A

Emulsification of intestinal contents.

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39
Q

What is the function of colipase in lipid digestion?

A

It binds to the water-lipid interface of emulsion droplets to activate pancreatic lipase.

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40
Q

What forms when monoglycerides and fatty acids remain associated with bile salts?

A

Mixed micelle

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41
Q

What type of fatty acids can diffuse directly into the enterohepatic portal circulation?

A

Short and medium chain fatty acids

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42
Q

How are long chain fatty acids processed after absorption?

A

They are combined with monoglycerides to re-form triglycerides and packaged into chylomicrons.

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43
Q

Where are most vitamins and minerals absorbed in the gut?

A

Jejunum and upper ileum

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44
Q

What is the primary mutation associated with cystic fibrosis?

A

Deletion of phenylalanine at position 508 (ΔF508).

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45
Q

What systems are primarily affected by cystic fibrosis?

A
  • Respiratory tract
  • Gastrointestinal system
  • Pancreas
  • Reproductive organs
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46
Q

What does CFTR primarily mediate?

A

Cl− secretion in exocrine epithelium.

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47
Q

What is the significance of immunoreactive trypsinogen (IRT) in cystic fibrosis?

A

It is used for newborn screening of CF.

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48
Q

What are pancreatic digestive enzymes classified as?

A

Zymogens

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49
Q

What is the consequence of decreased Cl− and HCO3− secretion in cystic fibrosis?

A

Hyperacidity leading to precipitation of digestive enzymes.

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50
Q

What is pancreatic enzyme replacement therapy (PERT) used for?

A

To manage pancreatic insufficiency in cystic fibrosis patients.

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51
Q

True or False: Only long chain fatty acids are absorbed through the intestinal mucosa.

A

False

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52
Q

Where are proteins digested and absorbed in the body?

A

Proteins are digested into tripeptides, dipeptides, or amino acids and absorbed in the duodenum or proximal jejunum of the small intestine.

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53
Q

What is the primary site for the digestion and absorption of fats?

A

The small intestine.

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54
Q

What enzyme breaks down triglycerides into free fatty acids?

A

Pancreatic lipase.

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55
Q

Where are vitamins and minerals absorbed in the small intestine?

A

In the upper small intestine, except for B12 which is absorbed in the terminal ileum.

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56
Q

What is the clinical impression of the 25-year-old patient with acute watery diarrhea?

A

The patient has hyponatremia and severe dehydration indicated by markedly elevated BUN (prerenal azotemia).

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57
Q

What type of diarrhea is indicated by the patient’s continuous diarrhea despite negligible oral intake?

A

Secretory diarrhea.

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58
Q

Which infectious agents are common causes of secretory diarrhea?

A
  • Cholera
  • Certain Escherichia coli strains
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59
Q

What is the most common cause of acute gastroenteritis worldwide?

A

Rotavirus.

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60
Q

What does cholera toxin disrupt in the body?

A

The Na+/K+ ATPase pathway.

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61
Q

What are the two types of transport systems utilized for electrolyte absorption along the gastrointestinal tract?

A
  • Electrogenic
  • Electroneutral
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62
Q

How does electrogenic transport function in the intestine?

A

Involves translocation of net charge across the membrane, primarily through Na+/K+ ATPase and Na+/nutrient cotransporters.

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63
Q

What is the function of the Na+/glucose cotransporter (SGLT1)?

A

Transports Na+ along with glucose into the cell.

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64
Q

What regulates the activity of the epithelial Na+ channel (ENaC)?

A

Aldosterone and the cAMP signaling pathway.

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65
Q

What happens in electroneutral transport in the intestine?

A

It occurs through a Na+/H+ exchanger and is accompanied by Cl− transport via Cl−/HCO3− exchanger.

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66
Q

What is the role of the epithelial cells in the villi compared to those in the crypts?

A

Cells of the villi are responsible for absorption; cells of the crypts are responsible for secretion.

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67
Q

What is the primary mechanism for chloride secretion in the intestine?

A

Active transport using the Na+/K+/2Cl− cotransporter (NKCC1).

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68
Q

How is bicarbonate secretion regulated in the duodenum?

A

Through transporters such as the Cl−/HCO3− antiporter or CFTR.

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69
Q

What are secretagogues and their effect on CFTR activity?

A

Substances like acetylcholine, histamine, and cholera toxin that modulate chloride secretion via second messengers.

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70
Q

What is the mechanism of action of vasoactive intestinal peptide (VIP)?

A

VIP binds to receptors, stimulating adenylyl cyclase and increasing cAMP, leading to CFTR activation and chloride secretion.

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71
Q

What is chloridorrhea?

A

A rare inherited disease causing congenital diarrheal disorder due to mutations in the Cl−/HCO3− exchanger.

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72
Q

What is the net effect of cholera toxin on chloride secretion?

A

It causes uncontrolled secretion of chloride and sodium into the lumen, leading to diarrhea.

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73
Q

What is the mechanism of action of cholera toxin?

A

Cholera toxin binds to secretory epithelial cells, triggering endocytosis and releasing A subunit that modifies G protein Gsa through ADP-ribosylation, leading to constitutive stimulation of cAMP and uncontrolled secretion of chloride and sodium into the lumen.

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74
Q

What is secretory diarrhea?

A

An uncontrolled secretion of osmotically active particles, most often electrolytes, into the intestinal lumen, where secretion overwhelms absorption.

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75
Q

What are guanylins?

A

A class of intestinal natriuretic peptides that regulate water and electrolyte transport in the intestine and sodium excretion by the kidneys.

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76
Q

How do guanylins affect sodium reabsorption?

A

Guanylins decrease sodium reabsorption from the intestine and increase sodium secretion by the kidneys after a salty meal.

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77
Q

What is the primary signaling pathway for guanylins and heat-stable E. coli peptides?

A

Activation of guanylate cyclase C located at the apical membrane of enterocytes, increasing intracellular cGMP concentration.

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78
Q

What is the role of cGMP in chloride secretion?

A

Increased cGMP activates cGMP-dependent protein kinase II (PKGII), leading to phosphorylation of CFTR and promoting Cl− secretion.

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79
Q

How does calcium affect CFTR activity?

A

Calcium can induce CFTR activity, but this response is transient and smaller compared to cAMP and cGMP secretagogues.

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80
Q

What are the main components of the transport of fluid in the mucosal lining?

A
  • Transcellular transport through apical and basolateral membranes in both small intestine and colon
  • Intercellular space transport only in the small intestine
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81
Q

What is electrogenic transport?

A

Active transmembrane diffusion of sodium or chloride that results in a residual charge allowing subsequent transfer of chloride and water to equilibrate.

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82
Q

What is the Na+/H+ exchanger (NHE)?

A

A mechanism for electroneutral sodium transport in the small intestine and colon, usually coupled with Cl− transport via Cl−/HCO3− exchanger.

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83
Q

How is chloride transported across the basolateral membrane of crypt epithelial cells?

A

Using the Na+/K+/2Cl− cotransporter.

84
Q

What is the role of CFTR in chloride secretion?

A

CFTR secretes chloride across the basolateral membrane and into the intestinal lumen, regulated by second messengers like cAMP, cGMP, and Ca2+.

85
Q

What is the Roux-en-Y gastric bypass procedure intended to achieve?

A

To reduce stomach volume and bypass the duodenum, disrupting normal digestive pathways and decreasing absorption of macro and micronutrients.

86
Q

What is dumping syndrome?

A

A condition caused by rapid gastric emptying resulting in osmotic diarrhea due to mal-digested contents being hyperosmolar.

87
Q

What are the clinical manifestations of vitamin and trace mineral deficiencies in this case?

A
  • Fatigue due to anemia
  • Motor and sensory deficits in extremities
  • Ataxia
  • Positive Romberg test
88
Q

What are the consequences of B12 deficiency?

A

Can lead to subacute combined degeneration in the spinal cord, encephalopathy, optic nerve damage, weakness, paresthesia, and ataxia.

89
Q

What laboratory findings indicate deficiencies in this patient?

A

Borderline deficiencies of folate, B12, iron, and zinc, with a profoundly low serum copper level.

90
Q

What is ceruloplasmin?

A

The major transporter of copper in the vascular space.

91
Q

What causes the mixed morphology of red blood cells in this patient?

A

Combined deficiencies of vitamin and trace minerals leading to both macrocytosis and microcytosis.

92
Q

What is the role of copper chaperones?

A

Small metalloproteins that move copper ions throughout the cell to protect from the redox potential of free copper ions.

93
Q

What is the underlying pathology that leads to the need for bariatric surgery?

A

Obesity linked with comorbidities such as type 2 diabetes, hyperlipidemia, hypertension, obstructive sleep apnea, and obesity hypoventilation syndrome

The body mass index (BMI) is used to measure obesity.

94
Q

What is the formula to calculate BMI?

A

Weight in kilograms divided by height in meters squared

95
Q

What is considered a normal BMI range?

A

18.5 to 24.9 kg/m2

96
Q

What are the BMI categories for overweight and obesity?

A
  • Overweight: 25-29.9 kg/m2
  • Class I Obesity: 30-34.9 kg/m2
  • Class II Obesity: 35.0-39.9 kg/m2
  • Class III Obesity: > 40 kg/m2
97
Q

What are the recommendations for bariatric surgery according to NIH guidelines?

A

BMI ≥ 40 kg/m2 without comorbidities or BMI 35-39.9 kg/m2 with at least one comorbidity

98
Q

What must patients undergo before bariatric surgery?

A

Psychological evaluation and assessment for lifelong lifestyle changes

99
Q

What are the four common types of bariatric surgery procedures?

A
  • Laparoscopic adjustable gastric banding
  • Sleeve gastrectomy
  • Duodenal switch with biliopancreatic diversion
  • Roux-en-Y gastric
100
Q

What are the three ways bariatric surgery leads to weight loss?

A
  • Caloric restriction
  • Iatrogenic malabsorption
  • Combination of both
101
Q

What is dumping syndrome?

A

Rapid gastric emptying causing food to move too quickly from the stomach to the small intestine

102
Q

What are the two types of dumping syndrome?

A
  • Early dumping
  • Late dumping
103
Q

When does early dumping occur and what are its symptoms?

A

Occurs within 10-30 minutes after a meal; symptoms include nausea, bloating, diarrhea, and vasomotor symptoms

104
Q

What causes late dumping syndrome?

A

Exaggerated insulin response to excessive carbohydrate load, leading to reactive hypoglycemia

105
Q

What vitamin and micronutrient deficiencies occur due to duodenal bypass?

A

Deficiencies in water-soluble vitamins and fat-soluble vitamins

106
Q

What are the water-soluble vitamins?

A
  • Thiamin (B1)
  • Riboflavin (B2)
  • Niacin (B3)
  • Pyridoxine (B6)
  • Folate (B9)
  • Cobalamin (B12)
  • Vitamin C
107
Q

What is a key role of thiamine (B1)?

A

Production of energy

108
Q

What can thiamine deficiency lead to?

A

Loss of appetite, irritability, confusion, and beriberi

109
Q

What are the fat-soluble vitamins?

A
  • Vitamins A
  • D
  • E
  • K
110
Q

What is the consequence of vitamin D deficiency?

A

Demineralization and osteopenia

111
Q

What are essential trace minerals?

A
  • Iodine
  • Iron
  • Copper
  • Zinc
  • Selenium
  • Fluoride
  • Cobalt
  • Manganese
  • Molybdenum
  • Chromium
112
Q

Which trace minerals are most affected by bariatric surgery?

A
  • Iron
  • Copper
  • Zinc
113
Q

What is the role of zinc in the body?

A

Involved in heme synthesis, DNA/RNA synthesis, reproduction, growth, immune function, and taste/smell

114
Q

What can zinc deficiency lead to post-bariatric surgery?

A

Hair loss, diarrhea, emotional disorders, weight loss, concurrent infections, and dermatitis

115
Q

What is noteworthy about the biochemistry of copper?

A

Integral part of oxidases, important for connective tissues, protects cells from reactive oxygen species, and involved in iron homeostasis

116
Q

What happens if there is a deficiency of copper?

A

Hematological and neurological disorders such as anemia

117
Q

What role does copper play in iron and zinc homeostasis?

A

Copper is involved in oxidizing iron from the +2 to the +3 state enabling incorporation into transferrin for transport in circulation.

118
Q

What is ceruloplasmin?

A

Ceruloplasmin is the major copper-carrying protein in the blood.

119
Q

What can result from copper deficiency after bariatric surgery?

A

Copper deficiency can lead to hematological and neurological disorders such as anemia and myeloneuropathy.

120
Q

How much copper does the body contain?

A

The body contains about 100 mg of copper.

121
Q

Where is copper absorbed in the body?

A

Copper is continually absorbed in the upper gastrointestinal tract.

122
Q

What transporter facilitates copper absorption at the enterocyte level?

A

The CMT-1 transporter.

123
Q

What is the principal transport vehicle for copper in circulation?

A

Ceruloplasmin transports 95% of copper in circulation.

124
Q

What are the two notable genetic disorders related to copper absorption?

A
  • Menkes disease
  • Wilson disease
125
Q

What causes Menkes disease?

A

Menkes disease is caused by a defect in the ATP7A gene leading to copper deficiency.

126
Q

What are the symptoms of Menkes disease?

A
  • Muscle weakness
  • Developmental delay
  • Seizures
  • Kinky colorless hair
127
Q

What characterizes Wilson disease?

A

Wilson disease is characterized by uncontrolled copper accumulation in tissues due to a defect in the ATP7B gene.

128
Q

What are the symptoms of Wilson disease?

A
  • Liver disease
  • CNS symptoms
  • Hemolysis
129
Q

What is maldigestion?

A

Maldigestion refers to pancreatic exocrine insufficiency resulting in nutrient loss.

130
Q

What is malabsorption?

A

Malabsorption refers to any disorder damaging the mucosal lining of the small intestine.

131
Q

What is dumping syndrome?

A

Dumping syndrome is the postprandial presentation of undigested gastric contents into the small intestine.

132
Q

What are the clinical sequelae of dumping syndrome?

A
  • Hypoglycemia
  • Diaphoresis
  • Tachycardia
  • Diarrhea
133
Q

What is the significance of bariatric surgery in relation to malabsorption?

A

Bariatric surgery creates iatrogenic malabsorption, which has serious consequences.

134
Q

What does carcinoid refer to?

A

Carcinoid describes tumors with a morphology that lacks classic malignancy characteristics.

135
Q

What are enterochromaffin cells (EC)?

A

EC are specialized cells in the gut that produce serotonin in response to stimulation.

136
Q

What is the function of enterochromaffin-like cells (ECL)?

A

ECL release histamine to stimulate parietal cells to secrete gastrin.

137
Q

What are neuroendocrine tumors (NET)?

A

NETs are rare neoplasms involving cells responsive to neuronal control and hormone production.

138
Q

What are the common symptoms of carcinoid syndrome?

A
  • Flushing
  • Diarrhea
  • Bronchospasm
  • Cardiac tricuspid valve disease
139
Q

What laboratory tests should be ordered to clarify a suspected neuroendocrine tumor?

A

A random 4-hour urine collection for 5-HIAA and a CAT scan of the chest.

140
Q

What is the pathophysiology of NETs?

A

NETs involve hormonally active substances that control bowel motility and secretion.

141
Q

What is the role of enteroendocrine cells in the GI tract?

A

They produce hormones and neurotransmitters that regulate motility, digestion, and absorption.

142
Q

What is the Zollinger-Ellison (ZE) syndrome?

A

ZE syndrome is caused by gastrin overproduction leading to excess acid production and peptic ulcers.

143
Q

Where is gastrin located mainly in the body?

A

Stomach and pancreas

144
Q

What stimulates the secretion of gastrin?

A

Rising pH of the stomach

145
Q

What inhibits the secretion of gastrin?

A

Somatostatin

146
Q

What can result from the overproduction of gastrin?

A
  • Hyperactivity of parietal cells
  • Hyperplasia of parietal cells
  • Excess acid production
  • Peptic ulcer formation
  • Gastroesophageal reflux disease (GERD)
147
Q

What are the common symptoms of gastrinoma?

A
  • Abdominal pain
  • GERD
  • Chronic diarrhea
148
Q

What is the result of hypersecretion of gastric acid?

A

Inactivation of pancreatic enzymes leading to steatorrhea

149
Q

What suggests a gastrinoma on clinical presentation?

A

Recurrent or multiple gastric ulcerations in an Helicobacter pylori negative patient along with secretory diarrhea

150
Q

What other neuroendocrine tumor syndrome is important to understand?

A

VIPoma (Verner-Morrison syndrome, pancreatic cholera, WDHA syndrome)

151
Q

What causes VIPoma?

A

Hypersecretion of vasoactive intestinal peptide (VIP)

152
Q

What are common symptoms of VIPoma?

A
  • Diarrhea
  • Electrolyte disturbances
153
Q

What is the main hormone overproduced in carcinoid syndrome?

154
Q

What role does serotonin play in the GI tract?

A
  • Increases intestinal secretion
  • Decreases absorption
  • Decreases motility
155
Q

What symptoms are associated with carcinoid syndrome?

A
  • Flushing
  • Diarrhea
  • Bronchospasm
  • Cardiac tricuspid valve disease
156
Q

When do serotonin-like symptoms appear in carcinoid syndrome?

A

When the tumor has metastasized to the liver

157
Q

What can excessive serotonin production lead to concerning tryptophan?

A

Depletion of tryptophan levels

158
Q

What is tryptophan important for synthesizing?

A
  • Serotonin
  • Melatonin
  • Niacin (vitamin B3)
159
Q

What is the first step in serotonin synthesis?

A

Catalyzed by tryptophan hydroxylase

160
Q

What is the end product of serotonin degradation?

A

5-hydroxyindoleacetic acid (5-HIAA)

161
Q

What is a useful marker in the diagnosis of carcinoid syndrome?

A

5-HIAA levels in serum and urine

162
Q

What medications are used to suppress serotonin effects in carcinoid syndrome?

A
  • Octreotide
  • Telotristat ethyl
163
Q

What is the most common tumor of the appendix?

164
Q

What are common symptoms of lactose intolerance?

A
  • Bloating
  • Flatulence
  • Diarrhea
165
Q

What is a disaccharide?

A

Products of a condensation reaction between two monosaccharides

166
Q

What are disaccharidases?

A

Brush border enzymes that hydrolyze disaccharides

167
Q

What is a monosaccharide?

A

A sugar unit that cannot be further broken down

168
Q

What is nonsense-mediated mRNA decay?

A

A pathway that selectively degrades mRNAs containing premature stop codons

169
Q

What are reducing sugars?

A

Sugars that contain aldehyde groups that can be oxidized

170
Q

What is the clinical impression when a patient presents with chronic secretory diarrhea?

A

Possibility of a rare but important neuroendocrine tumor

171
Q

What is the relationship between IBS and more serious conditions?

A

IBS is a diagnosis of exclusion; more serious conditions should be ruled out first

172
Q

What diagnostic tests are used for disaccharidase deficiency?

A
  • Hydrogen breath test
  • Oral tolerance tests
173
Q

What happens when disaccharides are not digested?

A

They are metabolized by colonic bacteria leading to diarrhea and bloating

174
Q

What is the hydrogen breath test used for?

A

To measure the amount of H2 produced from the gut, correlating with maldigestion from bacteria metabolizing lactose

This test is useful in diagnosing disaccharidase deficiencies.

175
Q

What does an oral tolerance test measure?

A

The rise in blood glucose levels after challenging the patient with a suspected disaccharide

An absence or small rise in blood glucose suggests a disaccharide deficiency.

176
Q

What is the purpose of measuring stool pH in the diagnosis of disaccharidase deficiencies?

A

To assess the acidity of stool, which can indicate malabsorption issues

A urine sample may also be used to monitor reducing sugars.

177
Q

Which sugar is not a reducing sugar and cannot be diagnosed with Clinitest?

A

Sucrose

Clinitest can be used for lactose but not for diagnosing sucrase deficiency.

178
Q

What is the most common type of lactose intolerance?

A

Primary, adult-onset hypolactasia

It affects about 65% of all adults and can reach 95% in certain ethnic groups.

179
Q

What is congenital lactase deficiency?

A

A rare condition distinguished from adult-onset hypolactasia by its onset during breastfeeding

It is inherited in an autosomal dominant manner.

180
Q

What genetic factor explains the two different phenotypes of lactose intolerance in adults?

A

A single nucleotide polymorphism

This affects the expression of the lactase gene.

181
Q

What is secondary lactose intolerance?

A

Acquired lactose intolerance resulting from mucosal injury

Causes include gastroenteritis, celiac disease, and Crohn’s disease.

182
Q

Which disaccharidase is most resistant to mucosal injury?

A

Maltase

It allows glucose absorption even in the presence of mucosal injury.

183
Q

What is the common treatment for disaccharidase deficiencies?

A

Elimination or reduction of the specific sugar from the diet

Lactase supplements and lactose-free products are also available.

184
Q

What is the relationship between lactase activity and symptoms of lactose intolerance?

A

Symptoms do not present until lactase activity drops below 50%

Lactase is not an inducible enzyme.

185
Q

What is the effect of gut flora changes on lactose intolerance?

A

Tolerance can develop due to changes in gut flora

Most people can consume small amounts of milk without symptoms.

186
Q

What are the key high-yield concepts related to disaccharidase deficiencies?

A
  • Some degree of disaccharide deficiency is common in adults worldwide
  • Diagnosis can be confounding with other conditions
  • Lactose intolerance is a prototypical example of osmotic diarrhea with a secretory component.
187
Q

What condition is characterized by the presence of coarse rales and bronchial breath sounds in a child?

A

Cystic fibrosis

It leads to pancreatic maldigestion and failure to thrive.

188
Q

What nutrient deficiency is likely in a patient with neurological symptoms after gastric bypass surgery?

A

Vitamin B12

Symptoms include glossitis and neurological deficits.

189
Q

How would you categorize the diarrheal illness characterized by fever, abdominal tenderness, and blood in the stool?

A

Inflammatory

This suggests an inflammatory disorder in the colon.

190
Q

What laboratory test is useful for diagnosing a patient with melena and duodenal ulcers?

A

Serum gastrin level

This can indicate conditions like Zollinger-Ellison syndrome.

191
Q

What is a typical symptom of explosive diarrhea after Roux-en-Y gastric bypass surgery?

A

Severe abdominal pain and urgency to defecate shortly after meals

This can be linked to changes in gut transit time.

192
Q

What is the most likely diagnosis for a child with chronic diarrhea and positive Sudan stain for fecal fat?

A

Cystic fibrosis

This condition leads to malabsorption and fat maldigestion.

193
Q

What is the likely cause of watery diarrhea in an infant with no blood or mucous in stools?

A

Lactose intolerance

This may occur after the introduction of solid foods.

194
Q

What is the pathogenesis of diarrhea due to Vibrio cholerae?

A

Overactivation of the alpha subunit of Gs-proteins

This leads to increased cAMP and subsequent electrolyte secretion.

195
Q

What is the typical presentation of an inflammatory disorder in the colon?

A

Fever, abdominal tenderness, blood in the stool, chronic diarrhea, lower abdominal cramplike pain, urgency, incontinence

These symptoms suggest an inflammatory picture rather than osmotic or motility disorders.

196
Q

What distinguishes osmotic diarrheal syndromes from inflammatory disorders?

A

Osmotic diarrheal syndromes typically present with bulky, watery fecal material that is controllable and ceases with fasting

In contrast, inflammatory disorders persist regardless of food intake.

197
Q

What is Zollinger-Ellison (ZE) syndrome characterized by?

A

Elevated gastrin levels, recurrent ulcer disease, multiple ulcerations, malabsorption due to diarrhea

It is a type of neuroendocrine tumor (NET).

198
Q

What should be considered when taking a dietary history for gastrointestinal symptoms?

A

Possible dietary indiscretion, consumption of caffeine or milk

A careful dietary history can help identify triggers for symptoms.

199
Q

What laboratory findings indicate celiac disease?

A

Elevated levels of IgA antihuman tissue transglutaminase, IgA antiendomysial antibodies

These findings are critical for the diagnosis of celiac disease.

200
Q

What is congenital chloride diarrhea (CCD)?

A

Defective intestinal absorption of Cl− and secretion of HCO3−, leading to hypochloremia, hypokalemia, hyponatremia, metabolic alkalosis

It results in high stool chloride and sodium levels.

201
Q

What causes dumping syndrome?

A

Rapid gastric emptying and duodenal bypass leading to maldigestion, hyperosmolarity, and osmotic diarrhea

Symptoms arise due to fluid shifts from the intravascular space to the intestinal lumen.

202
Q

What is sucrase deficiency and how is it diagnosed?

A

Deficiency causing diarrhea with the introduction of fruits and vegetables; diagnosed by negative reducing sugar test

Sucrose is not a reducing sugar, hence a negative result is expected.

203
Q

How does Vibrio cholerae cause secretory diarrhea?

A

Secretes a toxin that activates the alpha subunit of Gs-proteins, increasing cAMP and causing chloride and water efflux

This leads to substantial secretory diarrhea.

204
Q

True or False: The diarrhea caused by cystic fibrosis is typically watery.

A

False

Cystic fibrosis leads to bulky, foul-smelling, greasy stools due to maldigestion and malabsorption.

205
Q

Fill in the blank: The presence of fever, rectal bleeding, and abdominal tenderness would likely rule out _______.

A

Motility disorders

These symptoms are not characteristic of motility disorders like irritable bowel syndrome.

206
Q

What are the symptoms of celiac disease?

A

Distended abdomen, colic, irritability

These symptoms can vary but are often associated with malabsorption.