Pediatric nephrology : journal of the International Pediatric Nephrology Association
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Hyperkalemia is commonly associated with renal failure and is rare if renal function is normal. It is rarely caused by rhabdomyolysis and can be life threatening if unrecognized. Rhabdomyolysis is caused by many disorders, including hypokalemia. ⋯ Hypokalemia as a cause of rhabdomyolysis often goes unnoticed, because of the counteracting effect of rhabdomyolysis on serum potassium. There are no pediatric reports showing hypokalemia as a cause of rhabdomyolysis leading to life-threatening hyperkalemia. This case emphasizes the vigilance required toward the occurrence of rhabdomyolysis, which if not detected promptly may prove fatal.
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Bartter syndrome is a genetic disorder with hypokalemic metabolic alkalosis and is classified into five types. Type IV Bartter syndrome is a type of neonatal Bartter syndrome with sensorineural deafness and has been recently shown to be caused by mutations in the BSND gene. Owing to the rarity of this disease, only a limited number of mutations have been reported. ⋯ The Q32X mutation is a novel mutation and the first nonsense mutation identified in this gene. The mild perinatal clinical features of the patient were similar to those of a patient reported with a homozygous G47R mutation. However, the severity of renal failure suggested that factors other than this gene might affect the manifestation of renal abnormalities.