Phenotype–genotype correlation in antenatal and neonatal variants of Bartter syndrome
نویسندگان
چکیده
منابع مشابه
Antenatal Bartter syndrome.
Antenatal Bartter syndrome is characterized by severe polyhydramnios in mother leading to premature delivery. Antenatal treatment has proven effective to prevent these problems. Postnatally newborns suffer from recurrent episodes of severe dehydration and electrolyte imbalance which can lead to fatal outcome. These manifestations are likely to be overlooked and missed under the umbrella of diag...
متن کاملAntenatal Bartter Syndrome: A Review
Antenatal Bartter syndrome (ABS) is a rare autosomal recessive renal tubular disorder. The defective chloride transport in the loop of Henle leads to fetal polyuria resulting in severe hydramnios and premature delivery. Early onset, unexplained maternal polyhydramnios often challenges the treating obstetrician. Increasing polyhydramnios without apparent fetal or placental abnormalities should l...
متن کاملNeonatal Bartter syndrome.
Bartter syndrome is an inherited renal tubular disorder with hypokalemia, hypochloremic metabolic alkalosis, normal blood pressure with hyper-reninemia and increased urinary loss of sodium, potassium and chloride. We report an infant with neonatal Bartter syndrome, who improved with potassium supplements.
متن کاملNeonatal bartter syndrome.
We report a case of neonatal Bartter syndrome in a 31 weeks premature baby girl with antenatal unexplained polyhydramnios requiring amnioreduction. She presented with early onset E. coli septicaemia and severe dehydration leading to pre-renal renal impairment which obscure the typical biochemical changes of hypokalaemic hypochloraemic metabolic alkalosis.
متن کاملFetal urine biochemistry in antenatal Bartter syndrome: a case report
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.
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ژورنال
عنوان ژورنال: Nephrology Dialysis Transplantation
سال: 2008
ISSN: 1460-2385,0931-0509
DOI: 10.1093/ndt/gfn689