Open AccessFetal urine biochemistry in antenatal Bartter syndrome: a case report
Author(s) -
Rachid Myriam L.,
Dreux Sophie,
Czerkiewicz Isabelle,
Deschênes Georges,
VargasPoussou Rosa,
MahieuCaputo Dominique,
Oury JeanFrançois,
Muller Françoise
Publication year - 2016
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.471
Subject(s) - tubulopathy , medicine , bartter syndrome , polyuria , polyhydramnios , endocrinology , fetus , urine , gitelman syndrome , pregnancy , hypokalemia , kidney , hypomagnesemia , materials science , metallurgy , magnesium , biology , genetics , diabetes mellitus
Key Clinical Message Bartter syndrome is a severe inherited tubulopathy responsible for renal salt wasting, and hence electrolyte disorders and dehydration. Prenatally, it is characterized by severe polyhydramnios caused by fetal polyuria. We studied for the first time fetal urine in a Bartter syndrome case and demonstrated that the tubulopathy is already present at 24 weeks of gestation.