5 results
Gitelman Syndrome Pathophysiology
Gitelman Syndrome is a rare autosomal recessive salt-losing tubulopathy with a prevalence of 1-
Gitelman Syndrome ... Syndrome is a rare ... in the distal tubule ... Contraction → ↑ Renin ↑ Ca ... #nephrology #diagnosis
Inherited Defects in Kidney Tubule Epithelial Cells

Renal glucosuria - Na+-dependent glucose cotransporter
Cystinuria - Amino acid transporter
Bartter
Inherited Defects ... ascending limb Gitelman ... Epithelial #Inherited #Defects ... #Kidney #Nephrology ... #Diagnosis #Differential
Causes of Metabolic Alkalosis: Differential Diagnosis
ECF volume contracted: urine chloride concentration <20 meq/L
 • Gastric alkalosis:
: Differential Diagnosis ... reabsorptive defect ... furosemide-like lesion) • Gitelman ... #Differential #Diagnosis ... #Causes #nephrology
Gitelman Syndrome Overview

What?
• Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter
• Gitelman's syndrome
Gitelman Syndrome ... cotransporter • Gitelman's ... distal convoluted tubule ... #Syndrome #diagnosis ... #nephrology #management
One and a Half Syndrome on Physical Exam

This 28 year old patient presented to clinic with
One and a Half Syndrome ... Entering VA was ... An APD was noted ... the hospital, diagnosed ... ophthalmology #neurology