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defects nephrology causes classification comparison epithelial gitelman hematology hypokalemia hypomagnesemia hypomg kidney management pathophysiology platelet syndrome tubule workup
Inherited Defects in Kidney Tubule Epithelial Cells Renal glucosuria - Na+-dependent glucose cotransporter Cystinuria - Amino acid transporter Bartter
Inherited Defects ... Tubule #Epithelial #Inherited ... Kidney #Nephrology #Diagnosis ... #Differential # ... Table
Hypomagnesemia - Etiologies by Mechanism Decreased GI Uptake - Poor dietary intake (particularly common in alcoholics)
diarrhea / IBD Renal ... - Familial renal ... Hypomagnesemia #Differential ... #Diagnosis #Low ... #Magnesium #Table
Inherited Qualitative Platelet Defects Bernard-Soulier Syndrome • Defect of adhesion due to a lack of GP Ib/IX/V
Inherited Qualitative ... in non-muscle myosin ... Defects #comparison #table ... #differential # ... diagnosis #hematology
Gitelman Syndrome Overview What? • Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter • Gitelman's syndrome
• Inherited (AR) ... alkalosis • Normal or low ... ratio 0.5%) Differential ... • Potassium • Magnesium ... Gitelman #Syndrome #diagnosis
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