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diagnosis syndromes gastroenterology polyposis adenomatous comparison familial gitelman hamartomatous hypertension hypokalemia inheritable kleefstra nephrology neurology pathophysiology patientinfo pediatrics peds person
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 ... Table #Diagnosis #Management
Stiff Person Syndrome (SPS) - Diagnosis and Management Summary Epidemiology: • Prevalence: 1-2 cases per million -
Stiff Person Syndrome ... Diagnosis and Management ... Severely impaired ambulation ... impairment of ambulation ... SPS #Diagnosis #Management
Hamartomatous Polyposis Syndromes - Peutz-Jeghers Syndrome (PJS), Juvenile Polyposis Syndrome (JPS), Cowden Syndrome (CS), Cronkhite-Canada (CC),
Peutz-Jeghers Syndrome ... Dominant I STKII Gene Mutation ... Autosomal Dominant I Mutation ... " - PTEN gene mutation ... #diagnosis #management
Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene deletion or mutation. Most kids
Kleefstra Syndrome ... gene deletion or mutation ... with Kleefstra Syndrome ... #Diagnosis #Management ... Pediatrics #Kleefstra #Syndrome
Adenomatous Polyposis Syndromes: Familial Adenomatous Polyposis (FAP), Attenuated FAP (AFAP), MUTYH associated polyposis (MAP) ✓ Genetic
Adenomatous Polyposis Syndromes ... → Turcot Syndrome ... → Gardner syndrome ... Adenomatous #Polyposis #Syndromes ... #diagnosis #management
Gitelman Syndrome Overview What? • Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter • Gitelman's syndrome
Gitelman Syndrome ... • Gitelman's syndrome ... - Mutation in the ... • Bartter syndrome ... diagnosis #nephrology #management
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