16 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
A table of lab ... additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... #Diagnosis #Algorithm ... #Differential # ... Neonatology #Peds ... #Pediatrics #Table
Gitelman Syndrome Pathophysiology
Gitelman Syndrome is a rare autosomal recessive salt-losing tubulopathy with a prevalence of 1-
Pathophysiology ... distal tubule. ↑ Nacl ... → Hypokalemia Metabolic ... #Syndrome #Pathophysiology ... #nephrology #diagnosis
Primary Metabolic Alkalosis - Differential Diagnosis Algorithm
Volume Depleted 2° hyperaldosteronism
 • Low Urine Cl-: Vomiting, NGT
Primary Metabolic ... Alkalosis - Differential ... Diagnosis Algorithm ... Bartter Syndrome, Gitelman ... #nephrology
Primary Metabolic Alkalosis - Differential Diagnosis Algorithm
Volume Depleted - 2° hyperaldosteronism
 • Low Urine Cl-: Vomiting,
Primary Metabolic ... Alkalosis - Differential ... Diagnosis Algorithm ... Bartter Syndrome, Gitelman ... #Nephrology #Causes
Metabolic Alkalosis - Urinary Chloride Algorithm
Cl- responsive metabolic alkalosis
 • Kidney loss of Cl-
Kidney loss of Cl ... Bartter syndrome, Gitelman ... urine #Algorithm #nephrology ... #differential # ... diagnosis
Inherited Defects in Kidney Tubule Epithelial Cells

Renal glucosuria - Na+-dependent glucose cotransporter
Cystinuria - Amino acid transporter
Bartter
syndrome - Na-K-2Cl ... ascending limb Gitelman ... Defects #Kidney #Nephrology ... #Diagnosis #Differential ... #Table
Gitelman Syndrome Overview

What?
• Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter
• Gitelman's syndrome
Hypochloremic metabolic ... ratio 0.5%) Differential ... #Syndrome #diagnosis ... #nephrology #management ... #pathophysiology
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
and decreased metabolism ... Reye syndrome (Peds ... deficiency #Ammonia #Pathophysiology ... Hyperammonemia #Differential ... #Diagnosis
Primary Metabolic Alkalosis - Differential Diagnosis Algorithm
Volume Depleted - 2° hyperaldosteronism
 • Low Urine Cl-: Vomiting,
Primary Metabolic ... Alkalosis - Differential ... Diagnosis Algorithm ... Bartter Syndrome, Gitelman ... #Nephrology #Causes