Bartter syndrome prenatal diagnosis based on amniotic fluid biochemical analysis

Pediatric Research
Arnaud GarnierFrançoise Muller

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 syndrome-affected 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-non-Bartter polyhydramnios (n = 30) and nonpolyhydramnios (n = 60). In Bartter syndrome, we observed significant differences (p < 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 di...Continue Reading

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Citations

Apr 28, 2011·Pediatric Research·Isabelle CzerkiewiczFrançoise Muller
Sep 24, 2011·International Journal of Nephrology·Georges Deschênes, Marc Fila
Nov 4, 2015·Prenatal Diagnosis·Myriam L RachidFrançoise Muller
Oct 2, 2015·Prenatal Diagnosis·Bichr AllafFrançoise Muller
Jun 27, 2015·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·K Brochard
Jun 12, 2016·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Leire GondraLaurence Heidet
Sep 21, 2016·Clinical Case Reports·Myriam L RachidFrançoise Muller
Nov 18, 2017·Clinical Journal of the American Society of Nephrology : CJASN·Anne LegrandRosa Vargas-Poussou
Jun 4, 2020·World Journal of Pediatrics : WJP·Flavia Cristina Carvalho MradAna Cristina Simões-E-Silva
Dec 15, 2017·Journal of the American Society of Nephrology : JASN·Robert Kleta, Detlef Bockenhauer
Sep 14, 2020·Prenatal Diagnosis·Marie-José AdamMaela Le Lous
Aug 18, 2021·European Journal of Medical Genetics·Satoshi TakemoriYoichi Kobayashi
Mar 10, 2011·Current Opinion in Obstetrics & Gynecology

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