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- W4233505604 abstract "Bartter syndrome is a rare autosomal recessive inherited salt-wasting tubulopathy. We represent the case report of a Bartter syndrome (type II) with a novel mutation in KCNJ1 gene: c.554C>T (p. Pro185Leu) from antenatal presentation to 6 months postpartum. 29-year-old pregnant woman with BMI 46 was referred to Riga Maternity Hospital due to severe polyhydramnios at 26+4 weeks of gestation. A detailed ultrasound examination revealed anatomically normal fetus. The fetal biometric data of the patient was consistent with 27/28 gestational weeks with severe polyhydramnios (AFI 36.4) and shortened cervix (7 mm). A normal oral glucose tolerance ruled out gestational diabetes mellitus. MRI excluded severe malformations. Diagnostic amniocentesis and amnioreduction reduced maternal dyspnoea and excluded chromosomal abnormalities and TORCH infections. The amniotic fluid analysis results showed the low protein level (1.96 g/l), elevated sodium (144 mmol/l), and chlorides in the upper reference limit (108 mmol/l). These enabled suggest Bartter syndrome. At 32+2 weeks labour was induced due to maternal respiratory distress and wide chorioamniotic membrane separation. Labour was complicated by severe placental abruption and newborn – boy was referred to NICU. Neonatal period was complicated by electrolyte abnormalities: hyponatremia, hypochloremic metabolic alkalosis, transient hypercalcemia that gradually developed into hypokalaemia, hypercalcemia and elevated renin and aldosterone levels characteristic to type II Bartter syndrome. At 6 months he is gaining weight within normal ranges and his psychomotor development is ahead of his corrected age, without any need for daily medications. The present case report describes the clinical course of a Bartter syndrome with novel mutation and its favorable prognosis for the neonate. Early recognition and interventions are essential to prolong the pregnancy and reduce complications of prematurity." @default.
- W4233505604 created "2022-05-12" @default.
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- W4233505604 date "2020-10-01" @default.
- W4233505604 modified "2023-10-05" @default.
- W4233505604 title "VP32.08: Clinical case of pregnancy and follow‐up of Bartter syndrome (type 2) with a novel mutation" @default.
- W4233505604 doi "https://doi.org/10.1002/uog.22811" @default.
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