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diagnosis algorithm genetics inbornerrors management metabolism neonatology nicu syndrome table 21hydroxylasedeficiency 21ohd causes chloride encephalopathy endocrinology gitelman heat heatstroke hypochloremia
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 ... #Pediatrics #Table ... NICU #Genetics #IEM
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds ... #Pediatrics #Table ... #IEM #NICU #InbornErrors
Renal Tubular Acidosis - Differential Diagnosis Algorithm Decreased Serum K, Urine pH < 5.5 - Proximal RTA Decreased
- Differential ... Increased Serum K = Hyperkalemic ... Jain via UNC IM ... #Differential # ... Diagnosis #Algorithm #nephrology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... : • Hyperkalemia ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds ... #pediatrics
Hypochloremia - Differential Diagnosis Algorithm Cause - Decreased Intake: • Low salt in diet • Exclusive D5W
Hypochloremia - Differential ... - Gitelman SIGNS ... cause metabolic acidosis ... Diagnosis #Algorithm #Pathophysiology ... #Nephrology #Chloride
Heat Illnesses and Heat Stroke - Differential Diagnosis Framework Heat Cramps: • Muscle pain or spasm -
Heat Stroke - Differential ... - Metabolic acidosis ... Collapse: • Pathophysiology ... → Syncope • Signs ... Hypocalcemia - Hyperkalemia
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Blood transfusion, Hypercalcemia ... Etiology: • Pathophysiology ... Reversible course Differential ... Seizures: Treat with AEDs ... diagnosis #management #neurology
Gitelman Syndrome Overview What? • Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter • Gitelman's syndrome
ratio 0.5%) Differential ... Renal tubular acidosis ... Syndrome #diagnosis #nephrology ... #management #pathophysiology ... #Hypokalemia
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