Pendred Syndrome

Epidemiology

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Etiology

  • Autosomal Recessive

Physiology

  • Decreased Activity of Pendrin: which normally functions as a sodium-independent chloride-bicarbonate exchanger on the apical membrane of type B intercalated cells in the distal nephron, working in conjunction with the neutral sodium-chloride cotransporter, to maintain normal sodium chloride balance

Diagnosis

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Clinical Manifestations

Cardiovascular Manifestations

  • Hypovolemia (see Hypovolemic Shock, [[Hypovolemic Shock]]): occurs only when these patients are treated with thiazide diuretics (which inhibit the neutral sodium-chloride cotransporter)

Endocrinologic Manifestations

  • Hypothyroidism with Goiter

Renal Manifestations

  • Metabolic Alkalosis (see Metabolic Alkalosis, [[Metabolic Alkalosis]]): occurs only when these patients are treated with thiazide diuretics (which inhibit the neutral sodium-chloride cotransporter)

Other Manifestations

  • Sensorineural Hearing Loss

Treatment

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References

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