A Variant of Bartter's Syndrome

Abstract

A case of early onset Bartter's syndrome associated with hydramnios, prematurity, hypercalciuria and nephrocalcinosis is reported. A literature review of Bartter's syndrome supports the hypothesis that the findings in this infant constitute a specific variant of Bartter's syndrome inherited in an autosomal recessive mode. Fetal polyuria in Bartter's syndrome leads to hydramnios, and the excess fluid causes premature birth. This variant of Bartter's syndrome should be included in the differential diagnosis of hydramnios, especially if the woman has had previous hydramnios resulting in a perinatal death. The disorder responds to treatment with indomethacin.

Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder

“…Some of the infants also have severe hypercalciuria. This particular variant is thought to be inherited as an autosomal recessive trait [Hogewind et al, 1981;Ohlson et al, 1984;De Rovetto et al, 1989;Leonhardt et al, 19921. Some of the infants with the IBS variant have been described as having a prominent forehead, triangular facies with drooping mouth and large eyes and pinnae [James et al, 1975;Ohlson et al, 19841.…”

Nephrocalcinosis and Prematurity: Importance of Urate and Oxalate Excretion

“…Thus, we have to explore the other pathways of lithogenesis [32], in agreement with the mixed type o f lithiasis found by Hufnagle et al [1]. To our knowledge, our study is the first to report oxalate and urate excretion in con junction with the development o f nephrocalcinosis.…”

“…Its routine use is supported by nontoxic serum levels of 25-(OH)D3 in premature neonates [19,20] and by an incidence of neph rocalcinosis not different in our study than in others. Other hypotheses advanced to explain the appearence of nephro calcinosis with phosphocalcic disorders include long im mobilization [9,10], corticosteroid use [31], theophylline therapy, and variants of Banter's syndrome [32,33]. But none of these hypotheses was specific and compatible with the clinical histories of the patiens.…”

Renal sonographic patterns in Bartter's syndrome

“…Bartter's syndrome with hypercalciuria is not widely recognised as a cause of nephrocalcinosis. Polyhydramnios and prematurity have been described as associations of the syndrome, and were present in seven of our patients [9]. Bartter's syndrome should always be considered if nephrocalcinosis is present in a preterm infant with a history of polyhydramnios.…”