Bartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen.

ABSTRACT: Objective: To investigate the phenotype-genotype correlation in different genetic kinds of Bartter syndrome type 3 in children. Methods: Clinical and genetic data of 2 patients with different mutations in Bartter syndrome type 3 was analyzed while the prognosis was compared after a 6-year follow-up or 2-year follow-up, respectively. Results: Bartter syndrome is a kind of autosomal recessive inherited renal disorder. The manifestation and prognosis of Bartter syndrome change with mutation types, and severe mutation were often accompanied with unfavorable prognosis. Comprehensive therapy with ibuprofen, antisterone, captopril, and potassium have remarkable effect, while ibuprofen may improve growth retardation partly. Conclusion: Bartter syndrome should be conside

SUBMITTER: Yang X 

PROVIDER: S-EPMC5989644 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature