6 results
Inherited Defects in Kidney Tubule Epithelial Cells

Renal glucosuria - Na+-dependent glucose cotransporter
Cystinuria - Amino acid transporter
Bartter
Inherited Defects ... in Kidney Tubule ... ascending limb Gitelman ... #Kidney #Nephrology ... #Diagnosis #Differential
Gitelman Syndrome Pathophysiology
Gitelman Syndrome is a rare autosomal recessive salt-losing tubulopathy with a prevalence of 1-
Gitelman Syndrome ... Syndrome is a rare ... in the distal tubule ... Contraction → ↑ Renin ↑ Ca ... #nephrology #diagnosis
Gitelman Syndrome - Diagnosis and Workup
Blood Work:
 - Hypokalemia
 - Hypomagnesemia
 - Metabolic Alkalosis
 - Elevated
Gitelman Syndrome ... autosomal dominant kidney ... of echogenic kidneys ... #Syndrome #Diagnosis ... #Workup #nephrology
Metabolic Alkalosis - Urinary Chloride Algorithm
Cl- responsive metabolic alkalosis
 • Kidney loss of Cl-
diuretic use, Bartter syndrome ... , Gitelman syndrome ... in the proximal tubule ... urine #Algorithm #nephrology ... #differential #diagnosis
Causes of Metabolic Alkalosis: Differential Diagnosis
ECF volume contracted: urine chloride concentration <20 meq/L
 • Gastric alkalosis:
: Differential Diagnosis ... reabsorptive defect ... furosemide-like lesion) • Gitelman ... #Differential #Diagnosis ... #Causes #nephrology
One and a Half Syndrome on Physical Exam

This 28 year old patient presented to clinic with
One and a Half Syndrome ... Entering VA was ... An APD was noted ... the hospital, diagnosed ... ophthalmology #neurology