Cases reported "Bartter Syndrome"

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1/106. Recombinant human growth hormone and Gitelman's syndrome.

    Gitelman's syndrome is a primary renal tubular disorder with hypokalemic metabolic alkalosis, hypocalciuria, and magnesium deficiency. Short stature is one of clinical manifestations in children. The pathogenesis of short stature in Gitelman's syndrome is not known. To evaluate whether growth hormone (GH) is deficient and whether recombinant human GH (rhGH) improves growth rate, rhGH therapy was tried in a child with Gitelman's syndrome. Both height and body weight were less than the third percentile. Laboratory and radiologic findings suggested GH deficiency. During the first 6 months, rhGH therapy with potassium supplement markedly elevated growth rate from 3.8 cm/yr to 12.0 cm/yr. After cessation of rhGH, height increment markedly decreased to the pretreatment level of 3.6 cm/yr during the second 6 months. Additionally, hypomagnesemia was corrected after rhGH therapy. Accordingly, GH deficiency may contribute to short stature in children with Gitelman's syndrome, and rhGH therapy would be an excellent adjunctive treatment for short children with Gitelman's syndrome whose condition is resistant to conventional therapies in terms of growth.
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keywords = potassium, deficiency
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2/106. 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.
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ranking = 1.9965701117276
keywords = potassium
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3/106. Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: a new hereditary renal tubular-pituitary syndrome?

    Gitelman disease was diagnosed in two unrelated children with hypokalemic metabolic alkalosis and growth failure (a boy and a girl aged 7 mo and 9.5 y, respectively, at clinical presentation) on the basis of mutations detected in the gene encoding the thiazide-sensitive NaCl cotransporter of the distal convoluted tubule. GH deficiency was demonstrated by specific diagnostic tests in both children. Hypertonic saline infusion tests showed a partial vasopressin deficiency in the girl and delayed secretion of this hormone in the boy. magnetic resonance imaging revealed an empty sella in both cases. Up to now, hypomagnesemia and hypocalciuria have been considered obligatory criteria for the diagnosis of Gitelman disease; however, our two patients had hypomagnesemia and hypocalciuria in less than half the determinations. GH replacement treatment was associated with a good clinical response in both children. It appears that these cases represent a new phenotype, not previously described in Gitelman disease, and that the entity may be considered a new complex hereditary renal tubular-pituitary syndrome.
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ranking = 0.0034298882724194
keywords = deficiency
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4/106. Bartter's syndrome in pregnancy: a case report and review.

    Bartter's syndrome is a rare renal tubular disorder, involving juxtaglomerular cells hyperplasia, characterized by normotensive hyper-reninism and secondary hyperaldosteronism, marked renal loss of potassium and profound hypokalaemia. Both clinical and biochemical features are heterogeneous, ranging from the incidental finding in an asymptomatic patient to marked clinical features of hypokalaemia. Inheritance is likely to be an autosomal recessive. We present a case of Bartter's syndrome complicating pregnancy in a Chinese woman. We documented an increasing demand for potassium supplement during pregnancy which stabilized by mid-trimester. The absence of pregnancy complications such as polyhydramnios indicated that the fetus was unlikely to be affected by the condition.
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ranking = 1.9965701117276
keywords = potassium
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5/106. A case of living-related kidney transplantation in Bartter's syndrome.

    Bartter's syndrome is a renal tubular disorder characterized by hypokalemia, metabolic alkalosis, increased urinary excretion of potassium and prostaglandins, a relative vascular resistance to the pressor effects of exogenous angiotensin ii, and hyperplasia of the juxtaglomerular apparatus. In most patients, the glomerular filtration rate is normal and chronic renal failure does not develop. We report here on a case of living-related kidney transplantation in Bartter's syndrome, in which a non-steroidal anti-inflammatory drug is suspected to be the cause of the end-stage renal disease.
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ranking = 0.99828505586379
keywords = potassium
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6/106. Bartter's syndrome: clinical study of its treatment with salt loading and propranolol.

    The clinical course of a 9 year old black male with Bartter's syndrome who has been followed since age 1 1/2 years is presented. He had been unable to conserve sodium on a low salt diet and has failed to show improvement in serum electrolytes while on a sodium loading regimen. He is now refractory to spironolactone and KCI therapy, even in conjunction with supplemental sodium. On two separate trials his electrolytes have approached normal with the combination of propranolol and spironolactone along with KCI and NaCl supplementation. However, his response to this regimen has been a temporary one with relapse to the pretreatment chemical status despite increasing doses of propranolol and potassium chloride.
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ranking = 0.99828505586379
keywords = potassium
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7/106. Bartter's syndrome. New insights into pathogenesis and treatment.

    Discussed here is a patient with normotension, hypokalemic alkalosis, hyperreninemia, hyperaldosteronism, juxtaglomerular cell hyperplasia and insensitivity to the pressor effects of angiotensin (Bartter's syndrome). The hyperreninemia and hyperaldosteronism were both suppressible with volume expansion. hypokalemia was correctible both short-term with potassium chloride infusions and long-term with spironolactone. Nevertheless, the abnormal pressor response to infused angiotensin could not be corrected by these maeuvers, suggesting that this defect is likely to be of primary pathophysiologic significance. We found that potassium loading markedly stimulated aldosterone excretion. This may explain the inadequacy of potassium supplementation alone to correct the hypokalemia and the observed "escape" from the potassium conserving effects of spironolactone seen in patients with Bartter's syndrome. The administration of propranolol in large doses only partially suppressed the marked hyperreniemia of our patient and failed to prevent a subsequent rise in the renin level which was associated with spironolactone therapy. In contrast, suppression of the renin level to normal was demonstrated by sodium loading. It is suggested that patients with Bartter's syndrome be treated simultaneously with large doses of spironolactone and a high sodium intake.
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ranking = 3.9931402234552
keywords = potassium
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8/106. Gitelman's syndrome first diagnosed as Bartter's syndrome.

    A 29-year-old man, who had been treated with potassium, spironolactone and indomethacin for over 9 years, was admitted because of nausea, vomiting, diarrhea and tetany manifestation. At the age of 20, he had been diagnosed as having Bartter's syndrome according to the criteria of the Japanese Ministry of health and Welfare. Findings on admission were hypokalemia, hypomagnesemia and hypocalciuria. Renal distal fractional reabsorption rates of sodium, chloride and calcium were markedly decreased by administration of furosemide but there was no obvious change with administration of thiazide. These findings indicate that the patient had Gitelman's syndrome rather than Bartter's syndrome.
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ranking = 0.99828505586379
keywords = potassium
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9/106. 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.
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ranking = 1.9965701117276
keywords = potassium
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10/106. Hypokalemic respiratory paralysis in Bartter's syndrome.

    life threatening hypokalemia can be a mode of presentation in renal salt wasting (Group-1) patients of Bartter's syndrome causing hypokalemic respiratory paralysis. Treatment on an emergent basis is required. In the long run, such patients may require higher doses of supplementary potassium and potassium sparing diuretics.
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ranking = 1.9965701117276
keywords = potassium
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