Link to Pubmed [PMID] – 27648267
Link to DOI – 10.1002/ccr3.471
Clin Case Rep 2016 09; 4(9): 876-8
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.