18 results
Gardner's Syndrome
Multiple pre-malignant colonic polyps with soft tissue & bony tumours. Associated with mutation to the
Gardner's Syndrome ... Associated with mutation ... #Gardners #Syndrome ... APC #Polyposis #Diagnosis
Causes of Hypercalcemia due to increased Vitamin D levels
 • The BIG 3:
Genetic: Williams syndrome ... elasticum, CYP24A1 mutation ... infantile), SLC34A1 mutation ... #differential #diagnosis
Pocket Comparison Guide to Heritable Hypertension Syndromes (Secondary Hypertension)

Bartter, Gitelman, Liddle, Primary Aldosteronism, 
GRA (Glucocorticoid Remediable
Heritable Hypertension Syndromes ... (Activating MR Mutation ... #Hypertension #Syndromes ... Comparison #Table #Diagnosis
Classification of Jaundice
Unconjugated hyperbilirubinemia (predominantly indirect bilirubin)
 • Increased bilirubin production (eg, hemolytic anemias, hemolytic reactions,
Crigler-Najjar syndrome ... Dubin-Johnson syndrome ... , Rotor syndrome ... ) or mutation in ... Classification #diagnosis
Stiff Person Syndrome (SPS) - Diagnosis and Management Summary

Epidemiology:
 • Prevalence: 1-2 cases per million -
(SPS) - Diagnosis ... Severely impaired ambulation ... - Diagnosis: ... impairment of ambulation ... #SPS #Diagnosis
Distal Renal Tubular Acidosis
Distal RTA is the true Nephrogenic RTA and can be truly divided into
diseases(Sjogren's Syndrome ... defect - ENaC mutation ... - SCNN mutation ... Acidosis #RTA #diagnosis
Leigh Syndrome 
History: 19-month-old girl with hypotonia, developmental 
delay, failure to thrive, and bilateral optic disc
Leigh Syndrome ... deficiency with MTND mutation ... MarkMamloukMD #Leigh #Syndrome ... Clinical #MRI #Brain #Diagnosis
Hypocalcemia - Differential Diagnosis Algorithm - Low and High Phosphate
LOW PHOSPHATE
 - Low/NormaI PTH
- Differential Diagnosis ... Phenytoin, Nephrotic Syndrome ... • Activating Mutation ... #Differential #Diagnosis
Venous Thrombosis vs Arterial Thrombosis - Differential Diagnosis Framework

VENOUS THROMBOSIS

 • Acquired Risk Factors:
	- >48 hours
- Differential Diagnosis ... Factor V Leiden mutation ... Prothrombin gene mutation ... • Nephrotic Syndrome ... #differential #diagnosis
Causes of Metabolic Alkalosis: Differential Diagnosis
ECF volume contracted: urine chloride concentration <20 meq/L
 • Gastric alkalosis:
: Differential Diagnosis ... Severe Cushing syndrome ... Congenital AME syndrome ... 2 inactivating mutation ... #Differential #Diagnosis