7 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
Gitelman Syndrome - Diagnosis and Workup
Blood Work:
 - Hypokalemia
 - Hypomagnesemia
 - Metabolic Alkalosis
 - Elevated
Gitelman Syndrome ... excretion of Cl > 0.5% Clinical ... of echogenic kidneys ... #Syndrome #Diagnosis ... #Workup #nephrology
Inherited Defects in Kidney Tubule Epithelial Cells

Renal glucosuria - Na+-dependent glucose cotransporter
Cystinuria - Amino acid transporter
Bartter
Inherited Defects in Kidney ... ascending limb Gitelman ... Liddle syndrome ... Inherited #Defects #Kidney ... #Nephrology #Diagnosis
Acute Kidney Injury - AKI Workup Algorithm and Differential Diagnosis
Baseline Investigations: full blood count with differential,
Acute Kidney Injury ... - AKI Workup Algorithm ... and Differential Diagnosis ... investigations depending on clinical ... #nephrology #causes
Metabolic Alkalosis - Urinary Chloride Algorithm
Cl- responsive metabolic alkalosis
 • Kidney loss of Cl-
diuretic use, Bartter syndrome ... , Gitelman syndrome ... in the proximal tubule ... urine #Algorithm #nephrology ... #differential #diagnosis
Gitelman Syndrome Overview

What?
• Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter
• Gitelman's syndrome
Gitelman Syndrome ... distal convoluted tubule ... (DCT) Clinical ... #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