Congenital Diarrheal Disorders Classification
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Questions and Answers

What is a common cause of chronic diarrhea in developing countries?

  • Rotavirus
  • Norovirus
  • Salmonella
  • Giardia lamblia (correct)
  • Which pathogen is more commonly associated with chronic diarrhea in developed countries?

  • Campylobacter
  • Giardia lamblia
  • Rotavirus (correct)
  • Shigella
  • What is a less common pathogen associated with chronic diarrhea?

  • Salmonella
  • Campylobacter
  • Strongyloides (correct)
  • Giardia lamblia
  • Which population is more likely to experience severe diarrhea from opportunistic microorganisms?

    <p>Immunocompromised children</p> Signup and view all the answers

    In which group do Clostridium difficile and cytomegalovirus act as opportunistic agents?

    <p>Oncologic patients</p> Signup and view all the answers

    What can trigger a vicious circle with malnutrition in children with HIV/AIDS?

    <p>Viral infection</p> Signup and view all the answers

    If the serum Na is 150 mmol/L, blood glucose is 800 mg/L, and BUN of 120 mg/L, what is the serum osmolality?

    <p>330 mOsm/L</p> Signup and view all the answers

    What is the principal extracellular cation that controls the osmolality of body fluids?

    <p>Sodium</p> Signup and view all the answers

    What is the formula for calculating serum osmolality?

    <p>(serum Na *x 2) + (glucose mg/L / 180)</p> Signup and view all the answers

    What is considered the normal range for serum osmolality?

    <p>270-290 mOsm/L</p> Signup and view all the answers

    Which electrolyte is lost in the stool in cases of diarrhea and contributes to osmolality disturbances?

    <p>Sodium</p> Signup and view all the answers

    What fluid compartments does serum osmolality govern the distribution between?

    <p>ECF and ICF compartments</p> Signup and view all the answers

    What are the four groups in which CDDs can be classified?

    <p>Defects of digestion, absorption and transport of nutrients and electrolytes; defects of enterocyte differentiation and polarization; defects of enteroendocrine cell differentiation; defects of modulation of intestinal immune response</p> Signup and view all the answers

    What is the incidence rate of cystic fibrosis in relation to genetic disorders associated with CDD?

    <p>1 in 2,500</p> Signup and view all the answers

    Which syndrome is likely to see an increase in identified patients due to the clinical application of exome sequencing?

    <p>IPEX syndrome</p> Signup and view all the answers

    Why are selected CDDs more frequent in certain ethnic groups?

    <p>Due to genetic predisposition</p> Signup and view all the answers

    In which population was a defect in the DGAT1 gene identified using whole-exome sequencing?

    <p>Ashkenazi Jewish family</p> Signup and view all the answers

    Which specific mutation is typically found in both Finnish and Japanese populations for lysinuric protein intolerance?

    <p>DGAT1 gene mutation</p> Signup and view all the answers

    What are the common signs that best predict dehydration?

    <p>Prolonged capillary refill time, dry mucous membranes, and general appearance</p> Signup and view all the answers

    Why is it challenging to distinguish between mild and moderate dehydration based on clinical signs alone?

    <p>Because mild and moderate dehydration have similar clinical presentations</p> Signup and view all the answers

    What symptoms typically precede the frequent passage of watery nonbloody stools in rotavirus acute gastroenteritis (AGE)?

    <p>Vomiting</p> Signup and view all the answers

    What is a common feature of the diarrhea in rotavirus AGE that helps differentiate it from other causes?

    <p>Presence of fecal leukocytes</p> Signup and view all the answers

    Which signs suggest severe dehydration in a patient?

    <p>Tachycardia and altered level of consciousness</p> Signup and view all the answers

    Why do most guidelines now combine mild and moderate dehydration categories?

    <p>Because distinguishing between them based on clinical signs is challenging</p> Signup and view all the answers

    What is the main cause of metabolic acidosis in severe diarrheal dehydration?

    <p>Gluconeogenesis leading to keto acids in the blood</p> Signup and view all the answers

    What is the defining feature of diarrhea?

    <p>Passage of loose or liquid stools 3 or more times per day</p> Signup and view all the answers

    Which symptom is characteristic of severe or persistent metabolic acidosis?

    <p>Pinkish lips, tongue, and cheeks</p> Signup and view all the answers

    In what condition is parenteral administration of sodium bicarbonate sometimes necessary?

    <p>Severe diarrheal dehydration with a bicarbonate concentration less than 10 mmol/L</p> Signup and view all the answers

    What signifies an incorrect case of diarrhea?

    <p>Frequent passage of formed stools</p> Signup and view all the answers

    Which condition leads to retention of hydrogen in the blood?

    <p>Severe diarrheal dehydration</p> Signup and view all the answers

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