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diagnosis causes hematology algorithm endocrinology male nephrology pathophysiology acidosis alkalosis arterial classification comparison conjugated defects distal embolism gitelman gynecomastia hypercalcemia
Causes of Hypercalcemia due to increased Vitamin D levels • The BIG 3:
Genetic: Williams syndrome ... elasticum, CYP24A1 mutation ... infantile), SLC34A1 mutation ... VitaminD #causes #differential
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 ... #unconjugated #differential
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 ... RTA #diagnosis #differential
Hypocalcemia - Differential Diagnosis Algorithm - Low and High Phosphate LOW PHOSPHATE - Low/NormaI PTH
Hypocalcemia - Differential ... Phenytoin, Nephrotic Syndrome ... • Activating Mutation ... #Hypocalcemia #Differential
Venous Thrombosis vs Arterial Thrombosis - Differential Diagnosis Framework VENOUS THROMBOSIS • Acquired Risk Factors: - >48 hours
Arterial Thrombosis - Differential ... Factor V Leiden mutation ... Prothrombin gene mutation ... • Nephrotic Syndrome ... pathophysiology #hematology #differential
Causes of Metabolic Alkalosis: Differential Diagnosis ECF volume contracted: urine chloride concentration <20 meq/L • Gastric alkalosis:
Metabolic Alkalosis: Differential ... Severe Cushing syndrome ... Congenital AME syndrome ... 2 inactivating mutation ... Metabolic #Alkalosis #Differential
Inherited Qualitative Platelet Defects Bernard-Soulier Syndrome • Defect of adhesion due to a lack of GP Ib/IX/V
Bernard-Soulier Syndrome ... mobility due to mutation ... Grey Platelet Syndrome ... comparison #table #differential
Myelodysplastic Syndromes (MDS) What? Myelodysplastic syndromes are a group of disorders caused by blood cells that are poorly
Myelodysplastic Syndromes ... Myelodysplastic syndromes ... (CML) • Felty Syndrome ... have a specific mutation ... blood count with differential
Causes of Male Infertility - Differential Diagnosis Algorithm Sperm Transport: • Vasectomy • Cystic fibrosis gene mutation
Infertility - Differential ... fibrosis gene mutation ... • Kartagener syndrome ... : • Kallmann syndrome ... #Infertility #Differential
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 ... ratio 0.5%) Differential ... • Bartter syndrome
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