35 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
Primary Metabolic Alkalosis - Differential Diagnosis Algorithm
Volume Depleted 2° hyperaldosteronism
 • Low Urine Cl-: Vomiting, NGT
Primary Metabolic ... Alkalosis - Differential ... Diagnosis Algorithm ... #Primary #Metabolic ... #nephrology
Primary Metabolic Alkalosis - Differential Diagnosis Algorithm
Volume Depleted - 2° hyperaldosteronism
 • Low Urine Cl-: Vomiting,
Primary Metabolic ... Alkalosis - Differential ... Diagnosis Algorithm ... #Diagnosis #Algorithm ... #Nephrology #Causes
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm
Cardiac:
 • Congenital Heart Disease
 •
Event (ALTE) - Differential ... Diagnosis Algorithm ... • Reye's Syndrome ... Disturbances Neurologic ... #Causes #Peds #
Gitelman Syndrome Pathophysiology
Gitelman Syndrome is a rare autosomal recessive salt-losing tubulopathy with a prevalence of 1-
Pathophysiology ... distal tubule. ↑ Nacl ... → Hypokalemia Metabolic ... #Pathophysiology ... #nephrology #diagnosis
Causes of Sudden Unexpected Death in Infancy (SUDI) - Differential Diagnosis Algorithm
Congenital Anomaly / Disorder:
 •
Diagnosis Algorithm ... Arrhythmia • Neurologic ... Pulmonary Anomaly • Metabolic ... Sudden Infant Death Syndrome ... #Causes #Peds #
Metabolic Alkalosis - Urinary Chloride Algorithm
Cl- responsive metabolic alkalosis
 • Kidney loss of Cl-
diuretic use, Bartter syndrome ... , Gitelman syndrome ... urine #Algorithm #nephrology ... #differential # ... diagnosis
Causes of Neuromuscular Weakness
 • Spinal Cord: Demyelinating Disease (MS), Epidural abscess, Infarction, Syringomyelia, Tetanus, Transverse
Guillain-Barre syndrome ... Shellfish poisoning, Meds ... Malnutrition, Metabolic ... Weakness #Causes #differential ... #diagnosis #neurology
Inherited Defects in Kidney Tubule Epithelial Cells

Renal glucosuria - Na+-dependent glucose cotransporter
Cystinuria - Amino acid transporter
Bartter
limb Gitelman syndrome ... tubule Liddle syndrome ... Defects #Kidney #Nephrology ... #Diagnosis #Differential ... #Table