title: Placental pathology in fetal bartter syndrome.
abstract: Bartter syndrome, which presents clinically with polyuria, urinary potassium loss, hypokalemia, hypercalciuria, and alkalosis, is an autosomal recessive disorder with mutations in genes encoding the Na-K-2Cl cotransporter, the chloride channel CLC-NKB, and the potassium channel ROMK. Prenatal diagnosis of Bartter syndrome is now possible; however, there are no reports of the placental pathology associated with fetal Bartter syndrome. We present the placental pathologic findings in two siblings with fetal Bartter syndrome. Both pregnancies were complicated by polyhydramnios and preterm delivery. The first pregnancy delivered at 30 weeks, and Bartter syndrome was diagnosed in the perinatal period. The subsequent pregnancy required periodic therapeutic amniocentesis secondary to massive polyhydramnios and delivered at 32 weeks gestation. The suspicion of fetal Bartter syndrome was very high in this second pregnancy, and the infant was confirmed to have Bartter syndrome subsequently. Both placentas were large for gestational age, weighing greater than the 95th percentile. Microscopic examination showed extensive subtrophoblastic basement membrane mineralization (special stains positive for iron and calcium) in the chorionic villi. This striking finding was present in both placentas. Subtrophoblastic mineralization has been described in the literature in placentas of fetuses with abnormalities including anencephaly, trisomy 21, and other congenital abnormalities; however, it has also been described in normal pregnancies. Mechanisms of calcification in the placenta are not well understood, but these striking cases suggest that defects in fetal renal excretion of ions can lead to dystrophic calcification within the placenta, particularly in a subtrophoblastic pattern.
authors.affiliation: Department of Anatomic Pathology, Yale University School of Medicine, PO Box 208070, New Haven, CT 06520, USA.
authors.forename: Linda M
authors.initials: LM
authors.lastname: Ernst
authors.forename: Vinita
authors.initials: V
authors.lastname: Parkash
mesh_terms: D000328:Adult; D000649:Amniocentesis; D001477:Bartter Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology*; D001485:Basement Membrane / Q000737:chemistry / Q000473:pathology; D002114:Calcinosis / Q000473:pathology; D002118:Calcium / Q000032:analysis; D005260:Female; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007501:Iron / Q000032:analysis; D009154:Mutation; D010920:Placenta / Q000473:pathology*; D010922:Placenta Diseases / Q000150:complications / Q000473:pathology*; D006831:Polyhydramnios / Q000209:etiology / Q000473:pathology; D011247:Pregnancy
chemical_list: D007501:Iron; D002118:Calcium