Congenital Diarrheal Disorders Classification

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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?

Immunocompromised children Signup and view all the answers

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

Oncologic patients Signup and view all the answers

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

Viral infection 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?

330 mOsm/L Signup and view all the answers

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

Sodium Signup and view all the answers

What is the formula for calculating serum osmolality?

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

What is considered the normal range for serum osmolality?

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

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

Sodium Signup and view all the answers

What fluid compartments does serum osmolality govern the distribution between?

ECF and ICF compartments Signup and view all the answers

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

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 Signup and view all the answers

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

1 in 2,500 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?

IPEX syndrome Signup and view all the answers

Why are selected CDDs more frequent in certain ethnic groups?

Due to genetic predisposition Signup and view all the answers

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

Ashkenazi Jewish family Signup and view all the answers

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

DGAT1 gene mutation Signup and view all the answers

What are the common signs that best predict dehydration?

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

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

Because mild and moderate dehydration have similar clinical presentations Signup and view all the answers

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

Vomiting Signup and view all the answers

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

Presence of fecal leukocytes Signup and view all the answers

Which signs suggest severe dehydration in a patient?

Tachycardia and altered level of consciousness Signup and view all the answers

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

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

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

Gluconeogenesis leading to keto acids in the blood Signup and view all the answers

What is the defining feature of diarrhea?

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

Which symptom is characteristic of severe or persistent metabolic acidosis?

Pinkish lips, tongue, and cheeks Signup and view all the answers

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

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

What signifies an incorrect case of diarrhea?

Frequent passage of formed stools Signup and view all the answers

Which condition leads to retention of hydrogen in the blood?

Severe diarrheal dehydration Signup and view all the answers