9 results
Localization of Renal Tubular Defects
Fanconi Syndrome: Proximal tubule
Bartter Syndrome: Thick ascending loop of Henle
Gitelman Syndrome: Distal
Renal Tubular Defects ... loop of Henle Gitelman ... Fanconi #Bartter #Gitelman ... #Pathophysiology ... #Nephrology
Inherited Defects in Kidney Tubule Epithelial Cells

Renal glucosuria - Na+-dependent glucose cotransporter
Cystinuria - Amino acid transporter
Bartter
Inherited Defects ... ascending limb Gitelman ... Epithelial #Inherited #Defects ... #Kidney #Nephrology ... #Differential #Table
Alexia Without Agraphia
Alexia without agraphia is a disconnection syndrome where patients cannot read but can write.
Alexia without ... disconnection syndrome ... Pathophysiology: ... Agraphia #clinical #neurology ... #diagnosis #pathophysiology
Gitelman Syndrome Overview

What?
• Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter
• Gitelman's syndrome
Gitelman Syndrome ... cotransporter • Gitelman's ... Pseudo Bartter-Gitelman ... #nephrology #management ... #pathophysiology
Guillain-Barre Syndrome - Summary

Acute AIDP that presents with rapidly progressive flaccid weakness

Epidemiology:
 • 1-2 cases/100,000 per
Guillain-Barre Syndrome ... Guillain-Barre Pathophysiology ... Opthaloplegia • Ataxia ... #diagnosis #management ... #treatment #neurology
Stiff Person Syndrome (SPS) - Diagnosis and Management Summary

Epidemiology:
 • Prevalence: 1-2 cases per million -
Diagnosis and Management ... and pernicious anemia ... Pathophysiology ... SPS #Diagnosis #Management ... #treatment #neurology
Common Variable Immunodeficiency (CVID)

What?
CVID: Immunodeficiency disorder with hypogammaglobulinemia -> increased infection risk secondary to impaired B-cell
Affects 1:25,000 ... - gastric and breast ... and M panel Management ... : • Nephrotic syndrome ... (Epstein-Barr syndrome
HIV-Associated Neurocognitive Disorder (HAND)

Definition:
HIV-Associated Neurocognitive disorders categories:
• Asymptomatic neurocognitive impairment
• Mild neurocognitive impairment
• HIV dementia

Pathophysiology:
HIV frequently
HIV dementia Pathophysiology ... barrier (BBB), and infects ... volume • Patchy areas ... The clinical syndrome ... motor slowing and ataxia
Multiple Sclerosis - Summary

Multiple Sclerosis (MS) is an autoimmune-mediated neurodegenerative disease of the central nervous system
• Or brainstem syndromes ... Afferent pupillary defect ... Cramping, Weakness, Ataxia ... sclerosis #diagnosis #management ... #neurology #treatment