Bartter syndrome prenatal diagnosis based on amniotic fluid biochemical analysis
| Autor: | Arnaud Garnier, Sophie Dreux, Jean-François Oury, Alexandra Benachi, Georges Deschênes, Françoise Muller, Rosa Vargas-Poussou |
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| Rok vydání: | 2009 |
| Předmět: |
Fetal Proteins
Male Polyhydramnios medicine.medical_specialty Amniotic fluid endocrine system diseases Prenatal diagnosis Gestational Age urologic and male genital diseases Bartter syndrome Sensitivity and Specificity Electrolytes Polyuria Predictive Value of Tests Pregnancy Internal medicine Prenatal Diagnosis medicine Humans Genetic Predisposition to Disease Retrospective Studies Fetus business.industry Gestational age Bartter Syndrome medicine.disease Amniotic Fluid female genital diseases and pregnancy complications Fetal polyuria Endocrinology Early Diagnosis Case-Control Studies Pediatrics Perinatology and Child Health Female alpha-Fetoproteins medicine.symptom business Biomarkers |
| Zdroj: | Pediatric research. 67(3) |
| ISSN: | 1530-0447 |
| Popis: | 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 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. |
| Databáze: | OpenAIRE |
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