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BACKGROUND AND OBJECTIVES Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal tubular disease. It is caused by mutations in CLDN16 and CLDN19, encoding claudin-16 and -19, respectively. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is usually complicated by progressive CKD. The objectives… (More)
Six 17- to 53-month-old diabetic children had marked metabolic instability characterized by chronic hyperglycemia and frequent or severe hypoglycemia with conventional management that included twice daily insulin injections, diet, and home blood glucose monitoring. Because of the metabolic instability, all were given continuous subcutaneous insulin… (More)
Major macrocytosis seems to be suggestive of triploidy in dysmature infants with multiple malformations. This marker may prove ethically useful since its presence may justify withholding special therapies until results of the karyotype are obtained.
One month after taking carbamazepine for pain relief, a 13 year-old child with Friedrich's ataxia presented with an allergic rash and digestive and cardiac symptoms. Two weeks later, non-oliguric renal failure suggestive of interstitial nephritis was present. Acute renal failure resolved with pulse methyl prednisolone injections relayed with prednisone… (More)