13 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics ... #IEM #Laboratory
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Pathophysiology ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds ... Pediatrics #Table #IEM
Elevated Liver Function Tests (LFTs) - Differential Diagnosis Framework
Mild (<100-500): 
 • NAFLD
 • Cirrhosis
 •
Function Tests (LFTs ... ) - Differential ... 500-1000): • Genetic ... #Differential # ... Diagnosis #hepatology
Primary Biliary Cirrhosis - Pathophysiology
Environmental Risk Factors: Geographic location, Smoking, Microbial triggers, Xenobiotics, Nail polish
Epigentics Risk
Biliary Cirrhosis - Pathophysiology ... Smoking, Microbial triggers ... DNA methylation Genetic ... relative with PBC Pathophysiology ... #hepatology
Liver Function Tests (LFTs) - Normal Values and Interpretation

Alanine aminotransferase (ALT/SGPT) - Liver, cardiac & skeletal
Function Tests (LFTs ... hepatocellular injury, genetic ... conjugation (Gillbert, Crigler-Najjar ... Function #Tests #LFTs ... Interpretation #diagnosis #hepatology
Patterns of Liver Injury
Transaminase Levels:
  > 50x normal - Ischemic Hepatitis
  > 20x normal
Hemolysis, NASH, Genetic ... Liver #Injury #hepatology ... #LFTs #transaminitis ... #differential #
Diagnosis and Management of Idiosyncratic Drug-induced Liver Injury (DILI)

DILI Types:
 • Intrinsic - predictable, dose dependent
dependent injury (ie ... Chronic - ongoing ↑ LFTs ... Idiosyncratic #differential ... gastroenterology #hepatology
Causes of Thrombocytopenia and Platelet Disorders - Differential Diagnosis and Workup
History:
 - Prior platelet count, family
Platelet Disorders - Differential ... Quantitative IgA, IgG, IgM ... gastric bypass), LFT ... Platelet #Disorders #Differential ... Causes #Workup #hematology
Differentiation Syndrome in APML
Epidemiology:
 • Incidence: common in APL (2-48% depending on the study)
 • Triggers:
the study) • Triggers ... ATRA treatment Pathophysiology ... initiation • Differential ... diagnosis #management #hematology
Primary Biliary Cirrhosis (PBC) - Summary

PBC Epidemiology:
 • Female:Male 9:1
 • Common European descent
 • Age:
65 years PBC Pathophysiology ... up to 70% • IgM ... bile ducts Differential ... diagnosis #workup #hepatology