8 results
Inherited Defects in Kidney Tubule Epithelial Cells

Renal glucosuria - Na+-dependent glucose cotransporter
Cystinuria - Amino acid transporter
Bartter
transporter Bartter syndrome ... limb Gitelman syndrome ... Liddle syndrome ... Defects #Kidney #Nephrology ... #Diagnosis #Differential
Causes of Metabolic Alkalosis: Differential Diagnosis
ECF volume contracted: urine chloride concentration <20 meq/L
 • Gastric alkalosis:
Metabolic Alkalosis: Differential ... Diagnosis ECF ... Metabolic #Alkalosis #Differential ... #Diagnosis #Causes ... #nephrology
Adie's Pupil
What? Unknown nature & benign
 • Regular and mildly dilated pupil (4-6mm);
 • Light-near dissociaton;
Holmes-Adie Syndrome ... Young females Differential ... Diagnosis: • CN ... #Adies #Pupil #PhysicalExam ... #neurology #ophthalmology
One and a Half Syndrome on Physical Exam

This 28 year old patient presented to clinic with
One and a Half Syndrome ... An APD was noted ... the hospital, diagnosed ... #PhysicalExam # ... ophthalmology #neurology
Metabolic Alkalosis - Urinary Chloride Algorithm
Cl- responsive metabolic alkalosis
 • Kidney loss of Cl-
, Gitelman syndrome ... in the proximal tubule ... urine #Algorithm #nephrology ... #differential # ... diagnosis
Metabolic Causes of Kidney Stones in Children
 • Calcium Oxalate: Primary Hyperoxaluria type 1-3, Secondary Hyperoxaluria
Acid: Lesch-Nyhan syndrome ... (RTA), Bartter Syndrome ... Kidney #Stones #pediatrics ... #nephrology #differential ... #diagnosis
The Neurological Evaluation of a Comatose Patient

Definition:
 • Coma: a state of unresponsiveness; the absence of
consciousness Differential ... Diagnosis: • ... caseyalbin #PhysicalExam ... #neurology #comatose ... #diagnosis
Gitelman Syndrome Overview

What?
• Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter
• Gitelman's syndrome
Gitelman Syndrome ... • Gitelman's syndrome ... distal convoluted tubule ... ratio 0.5%) Differential ... #diagnosis #nephrology