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PubMedDate not supplied

Placental pathology in fetal bartter syndrome.

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.

Adult↗
PubMed1998

Two novel mutations of the gene for Kir 1.1 (ROMK) in neonatal Bartter syndrome.

Bartter syndrome, an autosomal recessive renal tubular disorder, is associated with hypokalemic metabolic alkalosis with high renin and aldosterone plasma concentrations with low or normal blood pressure and renal salt loss. Two genes, the gene encoding the furosemide-sensitive apical Na-K-2Cl cotransporter (NKCC2) and the gene encoding the luminal inwardly-rectifying potassium channel Kir 1.1 (ROMK), have been reported to cause the neonatal subtype of Bartter syndrome. In a patient with neonatal Bartter syndrome, we report two novel mutations resulting in amino acid exchanges Ala156Val and Leu220Phe in the gene for Kir 1.1 that have been identified by single-strand conformation polymorphism analysis and subsequent direct sequencing. Both mutations occur in functional relevant domains of the channel protein and are therefore highly suggestive of altering channel properties.

Adult↗
PubMed1999

Biochemical examination of mother's urine is useful for prenatal diagnosis of Bartter syndrome.

Bartter syndrome is characterized by renal potassium and chloride loss, hypokalaemia, hypochloraemic metabolic alkalosis and increased plasma renin activity along with elevated angiotensin II and hyperaldosteronism. For diagnosis we conducted biochemical examinations of both amniotic fluid and the mother's urine. Except for potassium, amniotic fluid electrolytes in a mother with a fetus with Bartter syndrome were high. Urinary chloride, sodium and calcium were very low. Thus, the latter parameters may allow prediction of fetal Bartter syndrome during the prenatal period.

Adult↗
PubMed2001

Functional implications of mutations in the human renal outer medullary potassium channel (ROMK2) identified in Bartter syndrome.

Bartter syndrome is an autosomal recessive heterogeneous renal tubular disorder affecting NaCl reabsorption in the thick ascending limb of Henle's loop (TAL). The aim of this study was to elucidate the functional implications of mutations in the predominant human ROMK isoform in TAL, hROMK2, involved in Bartter syndrome type II. cRNA of flag-tagged hROMK2 and eight mutants identified in seven non-related patients was expressed in Xenopus laevis oocytes. hROMK2 activity was measured by two-electrode voltage-clamp analysis and defined as the Ba2+ -sensitive current at a holding potential of -75 mV. The subcellular localization of hROMK2 in oocytes was studied by immunocytochemistry. Injection of 25 pg hROMK2 cRNA resulted in an inwardly rectifying Ba2+ -sensitive current of 522+/-43 nA ( n=22). The mutants could be divided into three distinct groups. First, at 25 pg injection mutants W80C, V103E and T313/350X exhibited no significant currents and could only be detected intracellularly. Upon 8 ng injection, plasma membrane presence was observed as well as currents up to 60% of wild-type current. Second, mutants V53E and V296G exhibited no Ba2+ -sensitive current, but were present in the plasma membrane at 0.1 ng and 8 ng injection levels. Third, mutants P91L and A179T were detectable on the plasma membrane (0.1 ng) and yielded currents of 98% and 80% of wild-type, respectively, at 25 pg injection. S294C yielded currents that were 45% of wild-type and were detected both on and just below the plasma membrane at 0.1 ng injection. This study has unraveled three distinct mechanisms by which mutations in hROMK2 could impair channel function in Bartter syndrome. Future experiments on kidney epithelial cell lines will have to confirm this classification, after which specific pharmacological treatments could be considered for each group of mutations.

Animals↗
PubMed2006

Neonatal 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.

Bartter Syndrome↗
PubMed1994

Prenatal diagnosis of Bartter syndrome.

Bartter syndrome, an autosomal recessive disorder of hyperaldosteronism and increased plasma renin, was suspected in an at-risk pregnancy due to the early occurrence of polyhydramnios. Further establishment of the diagnosis was accomplished by demonstrating increased levels of aldosterone in amniotic fluid and fetal cord blood. Electrolyte levels did not differ significantly from reported controls. It is thus suggested that polyhydramnios is the result of increased fetal urine output in Bartter syndrome and that amniotic fluid aldosterone is a reliable marker for the prenatal diagnosis of this condition.

Adult↗
PubMed1984

A variant of Bartter's syndrome. Bartter's syndrome associated with hydramnios, prematurity, hypercalciuria and nephrocalcinosis.

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.

Bartter Syndrome↗
PubMed1993

[Bartter syndrome].

Bartter's syndrome, sometimes a familial autosomal recessive condition, is characterized by hypokalaemia with normal kaliuresis, hyperreninaemia with secondary hyperaldosteronism, vascular resistance to angiotensin and overproduction of prostaglandins by the kidneys. This syndrome is rare but sometimes envisaged in patients with unexplained hypokalaemia, the main difficulty being to exclude intoxication with diuretics which is very similar in all respects. Its physiopathology is unknown, and the various hypotheses put forward since it was first described (vascular insensitiveness to angiotensin, defect of sodium or chloride reabsorption, excess of atrial natriuretic factor, general abnormality of membrane permeability) were unable to demonstrate their primary character, each disorder described seeming, subsequently, secondary to another. For this reason, treatment is difficult and disappointing, but although the hypokalaemia is sometimes worrying, Bartter's syndrome is usually a benign condition.

Bartter Syndrome↗
PubMed1986

[Bartter syndrome and pseudo-Bartter syndrome--a case report].

One patient with Bartter-syndrome and two patients with pseudo-Bartter-syndrome in abuse of laxatives and diuretics, respectively, were examined clinically and biochemically. The causes of the severe disturbances of the electrolyte metabolism are demonstrated. The differential diagnosis between Bartter- and pseudo-Bartter-syndrome is discussed, exact investigations of electrolyte balance of intake and output are decisive. In consequent therapy with prostaglandin inhibitors (indomethacin), aldosterone antagonists (verospirone) and oral electrolyte supply the prognosis of the Bartter-syndrome is favourable. Little successful is the treatment of the pseudo-Bartter-syndrome. On account of the severe psychic disturbance of the personality a renunciation of laxatives and diuretics, respectively, is frequently not to be achieved.

Adult↗
PubMed2003

Successful management of an extreme example of neonatal hyperprostaglandin-E syndrome (Bartter's syndrome) with the new cyclooxygenase-2 inhibitor rofecoxib.

OBJECTIVE: To describe the successful treatment of an unusual case of severe neonatal Bartter's syndrome refractory to treatment with indomethacin. DESIGN: Case report, clinical. SETTING: Tertiary care intensive care unit. PATIENTS: A patient with neonatal hyperprostaglandin-E syndrome and excessive requirements of intravenous (via central venous catheter) water and salt supplementation, failure to thrive, vomiting, and massive growth retardation, despite adequate treatment with indomethacin. MAIN RESULT: Four weeks after induction of the new cyclooxygenase-2 inhibitor rofecoxib, the patient was well, on full enteral feeds, thriving, and had gained 600 g in weight. A lower supplementary potassium, magnesium, and sodium intake was required. Reinstitution of indomethacin therapy resulted in severe deterioration, despite high indomethacin doses; symptoms improved again after rofecoxib administration. No side effects have been seen thus far. CONCLUSION: This report shows that in selected patients with a severe form of neonatal Bartter's syndrome, the new cyclooxygenase-2 inhibitor rofecoxib may control the clinical symptoms of hyperprostaglandin-E syndrome after ineffective indomethacin therapy.

Bartter Syndrome↗
PubMed1985

Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome.

A congenital hypokalemic tubular disorder is described with many features resembling Bartter syndrome. Additional features include prenatal onset with polyhydramnios and premature labor; failure to thrive; episodes of fever, vomiting, diarrhea, and renal electrolyte and water wastage; hypercalciuria; nephrocalcinosis; and osteopenia. Unlike Bartter syndrome, there is no defect in tubular reabsorption of chloride. Urinary levels of prostaglandin E2 and 7 alpha-hydroxy-5,11-diketotetranorprosta-1,16-dioic acid are selectively elevated, indicating marked stimulation of renal and systemic PGE2 production. Chronic suppression of PGE2 activity by indomethacin corrects most of the abnormalities, and there is an immediate decompensation of the disease on indomethacin withdrawal. We conclude that these preterm infants have a distinct variety of hypokalemic tubular disorders rather than a variant of Bartter syndrome, because renal and systemic hyperprostaglandinism ranks high in the pathogenic chain of events, and the suppression of PGE2 hyperactivity is associated with significant improvement in the development (and probably in the prognosis) of the affected children.

Bartter Syndrome↗
PubMed1998

Choroidal calcification in Bartter syndrome.

PURPOSE: Bartter syndrome is characterized by hyperplasia of the renal juxtaglomerular apparatus, hyperaldosteronism, and hypokalemic alkalosis. We report a case of Bartter syndrome associated with normal serum calcium levels and posterior choroidal calcification. METHODS: Case report. A 59-year-old man with bilateral cataract and Bartter syndrome underwent a complete ophthalmic examination, including standardized echography before and after cataract surgery. RESULTS: Before cataract surgery, echography identified small, hyperreflective, multifocal, bilateral choroidal lesions with posterior shadowing. After surgery, these lesions appeared as yellow-white, barely elevated plaques with smooth edges and were diagnosed as choroidal calcification. CONCLUSIONS: Choroidal calcification may occur in patients with Bartter syndrome. This condition should be added to the differential diagnosis of posterior segment calcification.

Bartter Syndrome↗
PubMed1993

Oculocerebral hypopigmentation syndrome associated with Bartter syndrome.

We describe a 20-year-old man with tyrosinase-negative oculocutaneous albinism, mental retardation, epilepsy, sensorineural deafness, ataxia, and Bartter syndrome. When combined, these neurocutaneous and renal findings form a previously unreported combination. The neurological and cutaneous manifestations of this case are distinctly different from those of the syndrome first reported by Cross et al. [1967]. The literature is reviewed and an attempt is made at classifying the oculocerebral hypopigmentation syndromes.

Adult↗
PubMed1983

Inheritance of Bartter syndrome.

The Bartter syndrome is regarded as an autosomal recessive trait because of sib occurrence, equal sex ratio, and normal parents. Recently, obligatory carriers were shown to have the same pattern of platelet aggregation inhibition as their affected children, possibly a reflection of altered prostaglandin action. We investigated eight patients, and their parents and sibs, and found that all persons included in the study had impaired thrombocyte aggregation. These aggregation studies support the hypothesis that the Bartter syndrome is an autosomal recessive trait.

Adenosine Diphosphate↗
PubMed1998

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.

Antenatal Bartter syndrome is a variant of inherited renal-tubular disorders associated with hypokalemic alkalosis. This disorder typically presents as a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark of this variant is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia. We have analyzed 15 probands belonging to 13 families and have performed SSCP analysis of the coding sequence and the exon-intron boundaries of the NKCC2 gene; and we report 14 novel mutations in patients with antenatal Bartter syndrome, as well as the identification of three isoforms of human NKCC2 that arise from alternative splicing.

Amino Acid Sequence↗
PubMed2000

Adrenomedullin and nitrite levels in children with Bartter syndrome.

Children with Bartter syndrome have lower than normal vascular reactivity with normotension in spite of biochemical and hormonal abnormalities which are typical of hypertension. Nitric oxide (NO) is a potent endogenous vasodilator, and plays an important role in the control of vascular tone. Adrenomedullin (AM) is a novel hypotensive peptide originally isolated from human pheochromocytoma. The possible role of NO and AM in maintaining this reduced vascular reactivity was examined by studying plasma and urinary nitrite, a stable metabolite of NO, and AM levels in ten children with Bartter syndrome, ten healthy controls, and five children with hypokalemia of causes other than Bartter syndrome (pseudo-Bartter). Urinary excretion of nitrite (mumol/mg urinary creatinine) was 8.9 +/- 1.2 in children with Bartter syndrome, 4.7 +/- 0.9 in healthy controls, and 2.9 +/- 0.8 in pseudo-Bartter (P < 0.05). Plasma nitrite levels (mumol/l) were 101.9 +/- 23.4, 59.9 +/- 14.7, and 65.0 +/- 29.7, respectively (P < 0.05), in the three groups. Urinary excretion of AM (pmol/mg urinary creatinine) was 187 +/- 40, 65 +/- 10, and 160 +/- 50, respectively (P < 0.05), in the three groups. Plasma AM levels were 47.4 +/- 1.8, 39.9 +/- 5.9, and 42.4 +/- 3.9, respectively (P > 0.05), in the three groups. The same parameters were repeated in the two groups of controls and in the Bartter patients in the 6th month of therapy. Urinary nitrite and AM levels were still higher in the Bartter patients than in the other groups. We conclude that in Bartter syndrome the increased NO production may be responsible for the reduced vascular response of the disease. Initially, increased levels of AM in Bartter syndrome and pseudo-Bartter may be a compensatory response to acute hypokalemia; however, continuation of a high level of urinary excretion of AM in children with Bartter syndrome may suggest also the possible role of AM in the reduced vascular response of the disease.

Adolescent↗
PubMed2005

A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV.

Bartter syndrome is a genetic disorder with hypokalemic metabolic alkalosis and is classified into five types. Type IV Bartter syndrome is a type of neonatal Bartter syndrome with sensorineural deafness and has been recently shown to be caused by mutations in the BSND gene. Owing to the rarity of this disease, only a limited number of mutations have been reported. We analyzed the BSND gene in a patient with type IV Bartter syndrome. The patient was delivered at 37 weeks, with normal body weight, and his neonatal course was uneventful. He was examined for developmental delay and polyuria at age 1 year 8 months and was found to have hypokalemia, metabolic alkalosis, hyperreninemic hyperaldosteronism, and sensorineural deafness. He developed end-stage renal failure at age 15 years, and renal transplantation was performed. We identified compound heterozygous mutations (Q32X and G47R) in the BSND gene. Each mutation was inherited from the parents. The Q32X mutation is a novel mutation and the first nonsense mutation identified in this gene. The mild perinatal clinical features of the patient were similar to those of a patient reported with a homozygous G47R mutation. However, the severity of renal failure suggested that factors other than this gene might affect the manifestation of renal abnormalities.

Bartter Syndrome↗