36 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... inborn errors of metabolism ... of information: Pediatrics ... , UpToDate #Pediatrics ... #Genetics #Pathophysiology
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Localization of Renal Tubular Defects
Fanconi Syndrome: Proximal tubule
Bartter Syndrome: Thick ascending loop of Henle
Gitelman Syndrome: Distal
loop of Henle Gitelman ... Syndrome: Distal ... Fanconi #Bartter #Gitelman ... Nephron #Defects #Pathophysiology ... #Nephrology
Gitelman Syndrome Pathophysiology
Gitelman Syndrome is a rare autosomal recessive salt-losing tubulopathy with a prevalence of 1-
Gitelman Syndrome ... Gitelman Syndrome ... → Hypokalemia Metabolic ... #Syndrome #Pathophysiology ... #nephrology #diagnosis
Hypokalemia - Differential Diagnosis Algorithm
Extra-renal Losses:
 • Normal Acid-Base: Low intake
 • Metabolic acidosis: Gl tract
Low intake • Metabolic ... Renal Losses: • Metabolic ... SAME, Cushing Syndrome ... , Gitelman syndrom ... potassium #low #nephrology
Primary Metabolic Alkalosis - Differential Diagnosis Algorithm
Volume Depleted 2° hyperaldosteronism
 • Low Urine Cl-: Vomiting, NGT
Primary Metabolic ... , Gitelman Syndrome ... , Liddle syndrome ... #Primary #Metabolic ... Diagnosis #Algorithm #nephrology
Primary Metabolic Alkalosis - Differential Diagnosis Algorithm
Volume Depleted - 2° hyperaldosteronism
 • Low Urine Cl-: Vomiting,
Primary Metabolic ... , Gitelman Syndrome ... , Liddle syndrome ... aldosteronism #Metabolic ... Diagnosis #Algorithm #Nephrology
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... cardiology #peds #pediatrics
Clinical Manifestations of Gitelman Syndrome #Diagnosis #Nephrology #Gitelman #Syndrome #Manifestations #Symptoms
Manifestations of Gitelman ... Syndrome #Diagnosis ... #Nephrology #Gitelman ... #Syndrome #Manifestations ... #Symptoms