Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects

Thu, Nov 10, 2011

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The pregnancy of a 28-year-old woman with one previous miscarriage is complicated by idiopathic polyhydramnios, which was first recognized by routine ultrasound at the end of the second trimester. After therapeutic amniocentesis (estimated amniotic fluid volume of 10 l) and rupture of membranes at 30 weeks of gestation, an acute Caesarean section was performed. The delivered male infant was appropriate for gestational age and showed an uneventful postnatal adaptation, except for a mild respiratory distress syndrome requiring a positive end-expiratory pressure device. However, a few days later, he developed hyponatremia, hyperkalemia, hyposthenuria, hypercalciuria, and a weight loss from birthweight by >15%. The diagnosis most likely is:






What is the most appropriate pharmacotherapeutic intervention in a patient with polyuric and hypercalciuric salt-losing tubulopathy associated with hyperaldosteronism?






Which patient with a salt-losing tubulopathy is most likely at risk to develop end-stage renal failure later in life?






Which special subtype of salt-losing tubulopathy is least likely to be associated with chronic hypercalciuria and nephrocalcinosis?





What is the most convenient way to differentiate between renal and extrarenal salt losses?





What is the most unlikely complication or sequelae of a DCT disorder with an apical uptake defect (GS)?








 
 

Renal amyloidosis in children

Thu, Nov 10, 2011

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Please go to Renal amyloidosis in children to view the quiz
 
 

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