An adolescent male presents with Hypokalemia, Metabolic Alkalosis, Hypercalciuria and Nephrocalcinosis. His Blood Pressure is normal. The likely diagnosis is:
Correct Answer: Bater Syndrome
Description: Answer is A (Bater Syndrome): Hypokalemic Metabolic Alkalosis with Hypercalciuria in a patient with normal blood pressure suggests a diagnosis of Bater Syndrome. Hypokalemic metabolic alkalosis with normal blood pressure may be seen in both Banter Syndrome and Gitelman's Syndrome. Presence of Nephrocalcinosis from Increased Urinary excretion of Calcium is typically seen in Bater's Syndrome and distinguishes Bater's Syndrome from Gitelman's Syndrome (Decreased Urinary Calcium Excretion). Liddle's Syndrome also causes Hypokalemic metabolic alkalosis but this disorder is typically associated with Hypeension (Blood Pressure is elevated) Presentation Diagnosis Hypokalemic Metabolic alkalosis with Hypeension Liddle's Syndrome Hypokalemic Metabolic Alkalosis without Hypeension Banner Syndrome (Increased Urinary Ca Excretion) Gitelman Is Syndrome (Decreased Urinary Ca Excretion) Impoant Mfferences Between Bater Syndrome and Gitelman's Syndrome Feature Bater Syndrome Gitelman Syndrome Location of kidney defect Ascending loop of Henle (Mimics effects of loop diuretics) Distal tubule (Mimics effects of thiazides) Urinary Calcium excretion Normal or increased, commonly with nephrocalcinosis Decreased Serum Mg level Normal Magnesium levels (May be decreased) Decreased, sometimes greatly Renal prostaglandin E2 production Increased Normal Usual age at presentation Before bih to early childhood, often with intellectual disability and growth disturbance Late childhood to adulthood Neuromuscular symptoms (e.g., muscle spasms, weakness) Uncommon or mild Common
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