17 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 ... cell epithelial sodium ... of epithelial sodium ... Defects #Kidney #Nephrology ... #Differential #Table
Initial Clinical and Laboratory Data Base for Defining Major Syndromes in Nephrology

#Major #Syndromes #Nephrology #Diagnosis #Workup
Defining Major Syndromes ... in Nephrology ... #Major #Syndromes ... #Workup #Differential ... #Table
Hypomagnesemia - Etiologies by Mechanism

Decreased GI Uptake 
 - Poor dietary intake (particularly common in alcoholics)
- Gitelman ... syndrome - ... - Hungry bones syndrome ... Low #Magnesium #Table ... Classification #Causes #Workup
Pocket Comparison Guide to Heritable Hypertension Syndromes (Secondary Hypertension)

Bartter, Gitelman, Liddle, Primary Aldosteronism, 
GRA (Glucocorticoid Remediable
Heritable Hypertension Syndromes ... Hypertension) Bartter, Gitelman ... Geller (Activating MR ... #Hypertension #Syndromes ... #Comparison #Table
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
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 ... Causes #Screening #Workup ... #table