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PedAM

Pediatric Disease Annotations & Medicines




Disease nephrocalcinosis
Symptom C0004775|bartter syndrome
Sentences 2
PubMedID- 21431899 A novel compound heterozygous romk mutation presenting as late onset bartter syndrome associated with nephrocalcinosis and elevated 1,25(oh)(2) vitamin d levels.
PubMedID- 20127383 The patient, with renal salt loss, was thought to have classic bartter syndrome due to absence of nephrocalcinosis, presence of persistent hypercalciuria and sensorineural deafness, and presence of relatively mild clinical and laboratory findings, except polyuria initially.

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