13 results
Gitelman Syndrome Pathophysiology
Gitelman Syndrome is a rare autosomal recessive salt-losing tubulopathy with a prevalence of 1-
Gitelman Syndrome ... Pathophysiology Gitelman ... Syndrome is a rare ... thiazide-sensitive sodium-chloride ... #nephrology #diagnosis
Inherited Defects in Kidney Tubule Epithelial Cells

Renal glucosuria - Na+-dependent glucose cotransporter
Cystinuria - Amino acid transporter
Bartter
ascending limb Gitelman ... tubule Liddle syndrome ... cell epithelial sodium ... of epithelial sodium ... Defects #Kidney #Nephrology
Hypernatremia Diagnosis and Workup

Step 1 . Repeat the sodium concentration.
Step 2.  Check plasma osmolality.
NORMAL PLASMA
Diagnosis and Workup ... Repeat the sodium ... • nephrotic syndrome ... Hypernatremia #Diagnosis #Workup ... #Algorithm #Nephrology
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
Diagnosis and workup ... the diagnostic workup ... MRI, iADL scale, ... Aphaso-apraxo-agnosia syndrome ... - 25% genetic component
Hypernatremia - Differential Diagnosis Workup Algorithm

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

What?
• Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter
• Gitelman's syndrome
Gitelman Syndrome ... thiazide-sensitive sodium ... cotransporter • Gitelman's ... thiazide-sensitive sodium ... #nephrology #management
Gitelman Syndrome - Diagnosis and Workup
Blood Work:
 - Hypokalemia
 - Hypomagnesemia
 - Metabolic Alkalosis
 - Elevated
Gitelman Syndrome ... Blood Work: - ... dr_missyhanna #Gitelman ... #Syndrome #Diagnosis ... #Workup #nephrology
Causes of Secondary Hypertension - Differential Diagnosis and Screening Testing
Common causes: 
 • Renal parenchymal disease
Oral sodium loading ... CT or MRI scan of ... • Cushing’s syndrome ... Mineralocorticoid excess syndromes ... Causes #Screening #Workup
Metabolic Alkalosis - Urinary Chloride Algorithm
Cl- responsive metabolic alkalosis
 • Kidney loss of Cl-
diuretic use, Bartter syndrome ... , Gitelman syndrome ... settings, the urine sodium ... the excretion of sodium ... urine #Algorithm #nephrology
Guillain-Barré Syndrome (GBS)
Acute autoimmune demyelinating polyradiculoneuropathy that presents with rapidly progressive flaccid weakness
Epidemiology:
 • Incidence: 1
Guillain-Barré Syndrome ... peripheral nerve components ... demyelinating or axonal • MRI ... - Spinal MRI may ... Guillain #Barre #Syndrome