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Case 1: A newborn with meconium ileus and elevated IRT.
Diagnosis???
Case 2: A 5-year-old with chronic cough, steatorrhea, and clubbing.
Diagnosis???
Case 3: A 12-year-old with recurrent Pseudomonas pneumonia and ΔF508 mutation.
Treatment???
Diagnosis???
Case 2: A 5-year-old with chronic cough, steatorrhea, and clubbing.
Diagnosis???
Case 3: A 12-year-old with recurrent Pseudomonas pneumonia and ΔF508 mutation.
Treatment???
❤2
🤰 A woman conceives while on lithium. Which fetal cardiac defect is associated? 🤔
A 7-year-old boy presents to the pediatrician for frequent urination.
His father reports that he has recently been drinking large amounts of water.
The patient also reports muscle aches.
The child is in the 5th percentile for height.
Blood pressure is 86/53 mmHg.
Laboratory blood testing reveals:
Hypokalemia
Metabolic alkalosis
Normal magnesium levels
Elevated renin levels
Elevated aldosterone levels
Urinary studies reveal:
Increased urinary sodium
Increased urinary potassium
Increased urinary prostaglandin E2
Increased 24-hour urinary calcium excretion
Genetic testing reveals a defect in a gene encoding a chloride channel found in the renal tubules (CLCNKB).
His father reports that he has recently been drinking large amounts of water.
The patient also reports muscle aches.
The child is in the 5th percentile for height.
Blood pressure is 86/53 mmHg.
Laboratory blood testing reveals:
Hypokalemia
Metabolic alkalosis
Normal magnesium levels
Elevated renin levels
Elevated aldosterone levels
Urinary studies reveal:
Increased urinary sodium
Increased urinary potassium
Increased urinary prostaglandin E2
Increased 24-hour urinary calcium excretion
Genetic testing reveals a defect in a gene encoding a chloride channel found in the renal tubules (CLCNKB).