CYP24A1 is an enzyme that inactivates vitamin D. Loss-of-function mutations in this enzyme are rare but have been linked with idiopathic infantile hypercalcemia as well as adult-onset nephrocalcinosis and nephrolithiasis. Genetic testing for this mutation should be considered in the presence of calciuria, elevated serum calcium, elevated 1,25-dihydroxyvitamin D, and suppressed parathyroid hormone. We present a case with these lab findings as well as an elevated 25-hydroxyvitamin D/24,25-dihydroxyvitamin D ratio in whom compound heterozygous CYP24A1 mutations were found. His hypercalciuria resolved and 1,25-vitamin D level improved with ketoconazole treatment. We suggest that it is clinically important to identify patients with this phenotype as testing and treatment options are available which could reduce progression to chronic kidney disease in this population.
We report a case of occlusion of a graft related to residual thrombus collection at the inflow in a blind pouch formed by conversion of a previous brachial cephalic fistula to a graft. The thrombus was unable to be dislodged by conventional methods with the use of a Fogarty balloon and maceration of thrombus with angioplasty. A covered stent was placed at the inflow segment over this thrombus in order to restore the flow through the graft. Angiographic evidence for this case is also reported.
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