24 results
Gitelman Syndrome Pathophysiology
Gitelman Syndrome is a rare autosomal recessive salt-losing tubulopathy with a prevalence of 1-
Gitelman Syndrome ... Gitelman Syndrome ... Hypokalemia Metabolic alkalosis ... #Syndrome #Pathophysiology ... #nephrology #diagnosis
Primary Metabolic Alkalosis - Differential Diagnosis Algorithm
Volume Depleted 2° hyperaldosteronism
 • Low Urine Cl-: Vomiting, NGT
Diuretics, Bartter Syndrome ... , Gitelman Syndrome ... GRA, Cushing's syndrome ... , Liddle syndrome ... #nephrology
Primary Metabolic Alkalosis - Differential Diagnosis Algorithm
Volume Depleted - 2° hyperaldosteronism
 • Low Urine Cl-: Vomiting,
Diuretics, Bartter Syndrome ... , Gitelman Syndrome ... GRA, Cushing's syndrome ... , Liddle syndrome ... #Nephrology #Causes
Gitelman Syndrome Overview

What?
• Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter
• Gitelman's syndrome
Gitelman Syndrome ... syndrome - Mutation ... #Syndrome #diagnosis ... #nephrology #management ... #pathophysiology
Metabolic Alkalosis - Urinary Chloride Algorithm
Cl- responsive metabolic alkalosis
 • Kidney loss of Cl-
diuretic use, Bartter syndrome ... , Gitelman syndrome ... urine #Algorithm #nephrology ... #differential # ... diagnosis
Gitelman Syndrome - Diagnosis and Workup
Blood Work:
 - Hypokalemia
 - Hypomagnesemia
 - Metabolic Alkalosis
 - Elevated
Gitelman Syndrome ... Hypomagnesemia - Metabolic Alkalosis ... dr_missyhanna #Gitelman ... #Syndrome #Diagnosis ... #Workup #nephrology
Inherited Defects in Kidney Tubule Epithelial Cells

Renal glucosuria - Na+-dependent glucose cotransporter
Cystinuria - Amino acid transporter
Bartter
transporter Bartter syndrome ... syndrome - Thiazide-sensitive ... tubule Liddle syndrome ... deficiency Nephrogenic syndrome ... #Diagnosis #Differential
Workup for Hypophosphatemia - Differential Diagnosis Framework
Rule out spurious hypophosphatemia: paraproteinemia, acute leukemia
Measure Urine Fractional Excretion
Glucose, Acute resp. alkalosis ... , Hungry bone syndrome ... Tumor genesis syndrome ... FGF-23: Fanconi syndrome ... #nephrology
Hypophosphatemia - Differential Diagnosis Algorithm
Appropriately Low Kidney Phosphate Excretion:
 • Decreased GI Absorption: Chronic Diarrhea, Antacids,
Shift: Refeeding Syndrome ... Acute Respiratory Alkalosis ... Tumor Genesis Syndrome ... FGF23: Fanconi Syndrome ... #workup
Hypernatremia - Differential Diagnosis Workup Algorithm

1) Check Urine Osmolality:
 > 600 mOsm/kg - Implies extrarenal mechanism
Diagnosis Workup ... Hypervolemic: Conn syndrome ... , Cushing syndrome ... #Diagnosis #Workup ... #sodium