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diagnosis symptoms nephrology differential genetics peds 21hydroxylasedeficiency 21ohd acute algorithm alzheimersdisease bartter bulimianervosa causes chloride comatose comparison complications defects dementia
Localization of Renal Tubular Defects Fanconi Syndrome: Proximal tubule Bartter Syndrome: Thick ascending loop of Henle Gitelman Syndrome: Distal
loop of Henle Gitelman ... Syndrome: Distal ... Fanconi #Bartter #Gitelman ... Nephron #Defects #Pathophysiology ... #Nephrology
Gitelman Syndrome Pathophysiology Gitelman Syndrome is a rare autosomal recessive salt-losing tubulopathy with a prevalence of 1-
Gitelman Syndrome ... Pathophysiology ... Gitelman Syndrome ... #Syndrome #Pathophysiology ... #nephrology #diagnosis
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Diabetes Insipidus vs Syndrome of Inappropriate ADH (SIADH) - Comparison Table Diabetes Insipidus - Inadequate ADH SIADH -
Diabetes Insipidus vs Syndrome ... Comparison #Table #Pathophysiology ... #Signs #Symptoms ... #Diagnosis #Endocrinology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Acute Spinal Cord Injuries: Pathogenesis and clinical findings • Anterior Cord Syndrome -> Anterior spinal artery
Anterior Cord Syndrome ... • Central Cord Syndrome ... #diagnosis #pathophysiology ... #signs #symptoms ... #orthopedics #neurology
Growth Hormone Excess - Pathogenesis and clinical findings • Acromegaly and gigantism share the same pathophysiology
share the same pathophysiology ... Carpal Tunnel Syndrome ... Overproduction #diagnosis #signs ... #symptoms #endocrinology ... #pathophysiology
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
mutations - Down syndrome ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Gitelman Syndrome Overview What? • Inherited (AR) hypokalemic salt-losing tubulopathies affecting the thiazide-sensitive sodium chloride cotransporter • Gitelman's syndrome
Gitelman Syndrome ... cotransporter • Gitelman's ... Pseudo Bartter-Gitelman ... #nephrology #management ... #pathophysiology
Hypochloremia - Differential Diagnosis Algorithm Cause - Decreased Intake: • Low salt in diet • Exclusive D5W
- Bartter - Gitelman ... SIGNS: • Muscle ... Diagnosis #Algorithm #Pathophysiology ... #Nephrology #Chloride
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