A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2027
Abstract: Type III Bartter syndrome (BS), often known as classic Bartter syndrome is caused by variants in CLCNKB gene, which encoding the basolateral chloride channel protein ClC‐Kb, and is characterized by renal salt wasting, hypokalemia, metabolic… read more here.
Keywords: novel clcnkb; clcnkb variant; bartter syndrome; bartter ... See more keywords
Adjunctive acetazolamide therapy for the treatment of Bartter syndrome
Sign Up to like & getrecommendations! Published in 2019 at "International Urology and Nephrology"
DOI: 10.1007/s11255-019-02351-7
Abstract: Purpose Bartter syndrome is a rare hereditary salt-losing tubulopathy caused by mutations of several genes in the thick ascending limb of Henle’s loop, characterized by polyuria, hypokalemic metabolic alkalosis, growth retardation and normal blood pressure.… read more here.
Keywords: adjunctive acetazolamide; bartter; acetazolamide therapy; treatment ... See more keywords
Bartter syndrome: An infrequent tubulopathy of prenatal onset.
Sign Up to like & getrecommendations! Published in 2019 at "Revista chilena de pediatria"
DOI: 10.32641/rchped.v90i4.932
Abstract: INTRODUCTION Bartter syndrome (BS) is a rare inherited tubulopathy that has two presentation forms, the first one is a severe form of antenatal onset (neonatal Bartter) and the second one is a later on set… read more here.
Keywords: onset; syndrome infrequent; bartter; bartter syndrome ... See more keywords