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Bartter syndrome in two siblings--antenatal and neonatal observations
Insights
Bartter syndrome, a genetic kidney disorder, was diagnosed in siblings. Early indomethacin treatment showed promise, but necrotizing enterocolitis necessitated its discontinuation.
Area of Science:
- Nephrology
- Pediatrics
- Medical Genetics
Background:
- Bartter syndrome is a group of inherited renal tubulopathies.
- This case involves two siblings diagnosed with Bartter syndrome.
Observation:
- Pregnancies were complicated by severe polyhydramnios.
- Amniotic fluid analysis revealed high chloride and low prostaglandin E2 levels.
- Infants experienced severe chloride and sodium wasting, leading to dehydration.
Findings:
- Urinary prostaglandin E2 (PGE2) excretion significantly increased post-birth.
- Indomethacin treatment in the first sibling improved growth, reaching P3 height and weight by age six.
- Necrotizing enterocolitis developed in the first sibling after one week of indomethacin therapy.
Implications:
- This case highlights the complex presentation of Bartter syndrome.
- The findings suggest a potential role for prostaglandin E2 in the pathophysiology.
- Early intervention with indomethacin may be beneficial but requires careful monitoring for adverse effects like necrotizing enterocolitis.
Abstract:
Bartter syndrome was diagnosed in two siblings born to healthy unrelated parents. Each pregnancy was complicated by severe polyhydramnios. The first child was treated with indomethacin from the age of then weeks on. At the age of six years he is doing very well: height is 109.9 cm (P3) and weight 17.8 (P3). Studies of the amniotic fluid during the mother's second pregnancy showed high chloride concentrations (112, 117, and 119 mEq/l), normal levels of sodium, potassium, calcium and creatinine and low prostaglandin E2 (5.0-22.3 pg/ml) and F2 alpha (36-71.7 pg/ml) concentrations. Severe chloride and sodium wasting after birth resulted in hypochloremia, hyponatremia and dehydration. Concomitantly an immediate and striking increase in urinary PGE2 excretion from 45 to 1022 pg/ml was observed. Indomethacin therapy had to be stopped after one week when necrotising enterocolitis developed.