Bartter Syndrome Prenatal Diagnosis Based on Amniotic Fluid Biochemical Analysis

Abstract

ABSTRACT:Bartter syndrome is an autosomic recessive disease characterized by severe polyuria and sodium renal loss. The responsible genes encode proteins involved in electrolyte tubular reabsorption. Prenatal manifestations, mainly recurrent polyhydramnios because of fetal polyuria, lead to premature delivery. After birth, polyuria leads to life-threatening dehydration. Prenatal genetic diagnosis needs an index case. The aim of this study was to analyze amniotic fluid biochemistry for the prediction of Bartter syndrome. We retrospectively studied 16 amniotic fluids of Bartter syndromeaffected fetuses diagnosed after birth, only six of them being genetically proven. We assayed total proteins, alpha-fetoprotein, and electrolytes and defined a Bartter index corresponding to the multiplication of total protein and of alpha-fetoprotein. Results were compared with two control groups matched for gestational age-nonBartter polyhydramnios (n ϭ 30) and nonpolyhydramnios (n ϭ 60). In Bartter syndrome, we observed significant differences (p Ͻ 0.0001) for protein amniotic fluid levels when compared with the two control groups (1.55 g/L, 3.9 g/L, and 5.2 g/L, respectively) and low Bartter index (0.16, 0.82, and 1.0, respectively). No statistical difference was observed for electrolytes. In conclusion, Bartter syndrome can be prenatally suspected on amniotic fluid biochemistry (sensitivity 93% and specificity 100%), allowing appropriate management before and after birth. (Pediatr Res 67: 300-303, 2010)

Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation

“…However, approximately 50 % of cases of polyhydramnios remain unexplained [6]. Biochemical analysis of amniotic fluid may be helpful for prenatal diagnosis of Bartter syndrome [7] or esophageal atresia [8].…”

Two Rare Causes of the Polyhydramnios: Congenital diarrhea and Bartter Syndrome

“…Bartter sendromunun neonatal formunda fetal diüre-zin artmasına bağlı polihidramniyoz ve sonucunda erken doğum sık görülmektedir (9)(10)(11)(12) . Amniyotik sıvı-nın elektrolit düzeylerinin analiziyle Bartter sendromu tanısı antenatal dönemde konabilir.…”

Biochemical Amniotic Fluid Pattern for Prenatal Diagnosis of Esophageal Atresia

“…Biochemical markers were assayed in amniotic fluid (Olympus, Hamburg, Germany): total protein (urinary/cerebrospinal fluid protein) expressed in g/L and digestive enzyme activities (26,27), including gamma-glutamyl transpeptidase (GGTP), L-leucine-aminopeptidase (AMP; EC 3.4.11.1), and alkaline phosphatase isoenzymes including the intestinal form (iALP). Amniotic fluid alpha-fetoprotein (AFP; DualKit, PerkinElmer, Turku, Finland) was also assayed.…”

“…In addition to fetal karyotyping, amniotic fluid digestive enzyme assay could be of interest for polyhydramnios etiology (25)(26)(27). The aim of this study was to evaluate the potential value of amniotic fluid digestive enzyme assay for the EA prenatal diagnosis, when suggested at routine ultrasound scan by indirect signs.…”