| 要約: | Inherited salt-wasting tubulopathies include antenatal Bartter syndrome (BS), classical (tip 3) BS, and Gitelman syndrome. BS is an autosomal recessive inherited syndrome associated with impaired sodium and chloride reabsorption in the renal tubule. In classical BS cases with mutations in CLCNKB gene, dehydration episodes are observed within the first year of life. Polyuria, polydipsia, and dehydration are common symptoms in BS. Hypokalemia, hypochloremia, and metabolic alkalosis are observed in almost all of the cases. In this article, we presented a case of type 3 BS without metabolic alkalosis. In the presence of failure to thrive, polyuria, and low sodium, potassium, and chloride, even in the absence of metabolic alkalosis, type 3 BS should be considered in the differential diagnosis.
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