Bartter_Gitelman_Syndrome

Bartter_Gitelman_Syndrome - Tuesday Clinical Case...

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Tuesday Clinical Case Conference 4/08 Zae Kim, MD
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Bartter-like salt losing tubulopathies History In 1962, Frederic Bartter Reported two patients with • Hypokalemic alkalosis normal blood pressure despite high aldosterone production Growth and mental retardation • Muscle weakness and cramps Salt craving and constipation • Polydipsia and polyuria Lab: • K 2-2.2 meq/L, HCO3 30-34 mmol/L, sCl 75-66 meq/L Endocrinologist’s approach = adrenalectomy Hyperplasia of the zona glomerulos Renal bx: hyperplasia of the juxtaglomerular apparatus
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Bartter-like salt losing tubulopathies History Works of McCredie, Fanconi, Dillion Two quite distinct clinical presentations of BS identified within the group of pediatric Bartter patient Neonatal variant of BS – The most severe form – Polyhydramnios, premature delivery – Growth retardation – marked hypercalciuria leading to nephrocalcinosis Classical Bartter syndrome Insidious onset in infancy – Present with failure to thrive Nephrocalcinosis is typically absent (hypercalciuria to lesser extent)
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Bartter-like salt losing tubulopathies History Gitelman syndrome Reported in 1966 “a new familial disorder characterized by hypokalemia and hypomagnesemia” in two adult sisters Clinically: Often present in early adulthood Predominantly musculoskeletal symptom Carpopedal spasm and normal growth Biochemical • Hypokalemia, but less marked than BS Hypomagnesemia is constant finding Pronounced hypocalciuria, where as BS have nl-to-high • BS with polyuria, 2/2 reduction of urinary concentrating ability, not present in Gitelman patients
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Bartter-like salt losing tubulopathies History Contribution by geneticists
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This note was uploaded on 12/24/2011 for the course STEP 1 taught by Professor Dr.aslam during the Fall '11 term at Montgomery College.

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Bartter_Gitelman_Syndrome - Tuesday Clinical Case...

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