13 results
Gitelman Syndrome Pathophysiology
Gitelman Syndrome is a rare autosomal recessive salt-losing tubulopathy with a prevalence of 1-
Gitelman Syndrome ... Gitelman Syndrome ... thiazide-sensitive sodium-chloride ... #Syndrome #Pathophysiology ... #nephrology #diagnosis
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
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
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
Hyponatremia - Differential Diagnosis Algorithm
Hypovolemic - Give volume
Hypervolemic (Edematous) - Look for and treat underlying cause
Hyponatremia - Differential ... cirrhosis, nephrotic syndrome ... Stress, Nausea, Pulmonary ... #diagnosis #nephrology ... #sodium
Connective tissue disease-associated interstitial lung diseases

LIP: lymphoid interstitial pneumonia. NSIP: nonspecific interstitial pneumonia. OP: organizing pneumonia.
PSS: Sjogren syndrome ... LungDisease #CTILD #Diagnosis ... #Differential # ... Comparison #Table ... #Pulmonary #Rheumatology
Metabolic Alkalosis - Urinary Chloride Algorithm
Cl- responsive metabolic alkalosis
 • Kidney loss of Cl-
diuretic use, Bartter syndrome ... , Gitelman syndrome ... urine #Algorithm #nephrology ... #differential # ... diagnosis
Stiff Person Syndrome (SPS) - Diagnosis and Management Summary

Epidemiology:
 • Prevalence: 1-2 cases per million -
Stiff Person Syndrome ... Stiff Person Syndrome ... Pathophysiology ... of Stiff Person Syndrome ... Stiff Person Syndrome
Differentiation Syndrome in APML
Epidemiology:
 • Incidence: common in APL (2-48% depending on the study)
 • Triggers:
Differentiation Syndrome ... ATRA treatment Pathophysiology ... Imaging: CXR- pulmonary ... initiation • Differential ... Differentiation #Syndrome
Weakness - Differential Diagnosis Framework

Approach To Weakness:
 • Non-neuromuscular disorder (Cardiac, pulmonary etc)
 • CNS ->
disorder (Cardiac, pulmonary ... • Acute stroke syndromes ... Paraneoplastic syndrome ... Lambert-Eaton - Isaacs' syndrome ... #Diagnosis #neurology