Cases reported "Bartter Syndrome"

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1/13. Phenotypic variability in bartter syndrome type I.

    Limited phenotypic variability has been reported in patients with bartter syndrome type I, with mutations in the Na-K-2Cl cotransporter gene (BSC). The diagnosis of this hereditary renal tubular disorder is usually made in the antenatal-neonatal period, due to the presence of polyhydramnios, premature delivery, hypokalemia, metabolic alkalosis, hypercalciuria, and nephrocalcinosis. Among nine children with hypercalciuria and nephrocalcinosis, we identified new mutations consistent with a loss of function of the mutant allele of the BSC gene in five. Three of the five cases with BSC gene mutations were unusual due to the absence of hypokalemia and metabolic alkalosis in the first years of life. The diagnosis of incomplete distal renal tubular acidosis was considered before molecular evaluation. Three additional patients with hypokalemia and hypercalciuria, but without nephrocalcinosis in the first two and with metabolic acidosis instead of alkalosis in the third, were studied. Two demonstrated the same missense mutation A555T in the BSC gene as one patient of the previous group, suggesting a single common ancestor. The third patient presented with severe hypernatremia and hyperchloremia for about 2 months, and a diagnosis of nephrogenic diabetes insipidus was hypothesized until the diagnosis of bartter syndrome type I was established by molecular evaluation. We conclude that in some patients with bartter syndrome type I, hypokalemia and/or metabolic alkalosis may be absent in the first years of life and persistent metabolic acidosis or hypernatremia and hyperchloremia may also be present. Molecular evaluation can definitely establish the diagnosis of atypical cases of this complex hereditary tubular disorder, which, in our experience, may exhibit phenotypic variability.
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2/13. 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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3/13. Heterozygous mutations of the gene for Kir 1.1 (ROMK) in antenatal bartter syndrome presenting with transient hyperkalemia, evolving to a benign course.

    Bartter-like syndrome encompasses a set of inherited renal tubular disorders associated with hypokalemic metabolic alkalosis, renal salt wasting, hyperreninemic hyperaldosteronism, and normal blood pressure. Antenatal bartter syndrome, a subtype of Bartter-like syndrome, is characterized by polyhydramnios, premature delivery, life-threatening episodes of fever and dehydration during the early weeks of life, growth retardation, hypercalciuria, and early-onset nephrocalcinosis. Mutations in the bumetanide-sensitive Na-K-2Cl cotransporter (NKCC2) and ATP-sensitive inwardly rectifying potassium channel (ROMK) of the thick ascending limb of Henle's loop have been identified in the antenatal bartter syndrome. We report the identification of two heterozygous mutations of the gene for Kir 1.1 (ROMK) from an antenatal bartter syndrome patient who presented at birth with mild salt wasting and a biochemical findings that mimicked primary pseudohypoaldosteronism type 1, such as hyperkalemia and hyponatremia, and evolved to a relatively benign course. We have identified amino acid exchanges Arg338Stop and Met357Thr in the gene exon 5 for ROMK by PCR and direct sequencing. Both mutations alter the C-terminus of the ROMK protein, and can affect channel function.
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4/13. Acquired bartter-like syndrome associated with gentamicin administration.

    Although acute nonoliguric renal failure is a well-known nephrotoxic effect of aminoglycoside antibiotics, less recognized is acquired Bartter-like syndrome. Herein, we describe four female patients who presented with marked paresthesia, muscle weakness, and tetany following gentamicin therapy with total dose ranging from 1.2 g to 2.6 g. All were normotensive. Biochemical abnormalities included hypokalemia (K 1.8-2.3 mmol/L), metabolic alkalosis (HCO(3-) 31.9-34.2 mmol/L), hypomagnesemia (Mg2 0.9-1.2 mg/dL), hypermagnesiuria (fractional excretion of Mg 3-6%), hypocalcemia (free Ca2 2.0-4.1 mg/dL), and hypercalciuria (molar ratio of Ca2 /creatinine 0.23-0.53), all consistent with Bartter-like syndrome. serum immunoreactive parathyroid hormone concentration was low despite the hypocalcemia. The Bartter-like syndrome lasted for 2 to 6 weeks after cessation of gentamicin, coupled with supplementation of K , Ca2 , and Mg2 . These biochemical abnormalities resembled those seen in patients with gain-of-function mutations in the calcium-sensing receptor. We hypothesize that gentamicin, a polyvalent cationic molecule, induces the action of calcium-sensing receptor on the thick ascending loop of henle and distal convoluted tubule to cause renal wasting of Na , K , Cl-, Ca2 , and Mg2 .
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5/13. Elevated aldosterone in amniotic fluid and maternal blood has diagnostic potential in pregnancies complicated with a fetus of bartter syndrome.

    Pregnancies with fetuses affected with the bartter syndrome, an autosomal recessive disorder of hyperreninism and hyperaldosteronism, are complicated by early onset of polyhydramnios which results in preterm deliveries. We have assessed biochemical changes in amniotic fluid and the mother's blood with a view to early diagnosis. aldosterone levels of both amniotic fluid and the mother's blood were found to be increased at 27 weeks of gestation, while electrolyte levels did not differ significantly from those reported earlier for controls. After birth the baby suffered from polyuria with hyponatremia, hypomagnesemia and hypercalciuria which could be controlled by treatment with sodium chloride and magnesium. Elevated aldosterone thus might be a useful marker for early diagnostic purposes.
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6/13. Case of bartter syndrome presenting with hypokalemic periodic paralysis.

    hypokalemic periodic paralysis can occur secondarily to excessive potassium loss. thyrotoxicosis, diuretic ingestions, hyperaldosteronism, barium poisoning, gitelman syndrome, and bartter syndrome are among the disorders causing secondary hypokalemic periodic paralysis. Clinical presentation of bartter syndrome with hypokalemic periodic paralysis is rare. A 12-year-old boy was admitted to our hospital because of transient paralysis. He had been suffering from transient weakness attacks for 2 years and had had a total of 10 attacks, lasting 1 to 3 days. He had growth retardation, polyuria, and polydipsia. Laboratory examinations revealed hypokalemic alkalosis, normomagnesemia, hypercalciuria, and hyperaldosteronism. The clinical and laboratory findings were in accordance with bartter syndrome. He has been followed up for 6 months and has suffered no further paralytic attacks under indomethacin therapy. This case highlights the importance of blood pH measurement in patients with hypokalemic periodic paralysis; it might prevent misdiagnosis and mismanagement in such diseases.
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7/13. hypokalemia with nephrocalcinosis: a variant of Bartter's syndrome.

    A 28-year-old male presented with profound hypokalemia and was found to have a variant of Bartter's syndrome with nephrocalcinosis, hypercalciuria, normal distal fractional reabsorption of chloride and normal sodium delivery to the distal tubule.
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8/13. growth from birth to adulthood in a patient with the neonatal form of bartter syndrome.

    growth from birth to the age of 19 years was studied in a patient with the neonatal form of bartter syndrome. The initial modes of therapy (extra fluid, potassium supplements and triamterene) resulted in satisfactory but not optimal growth. Treatment with spironolactone together with potassium led to impressive catch-up growth. When the patient reached the age of 9 years, indomethacin therapy was started, which resulted in a second growth acceleration and was also accompanied by a significant reduction of both polyuria and hypercalciuria. puberty developed normally, menarche occurred at 12 years 4 months and a normal adult height of 162 cm was reached at the age of 14 years. Treatment with prostaglandin synthetase inhibitors seems to be the best therapy for children with the neonatal form of bartter syndrome.
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9/13. Familial Bartter's syndrome: report of a case with early manifestations and persistent hypercalciuria.

    A case of familial Bartter's syndrome is reported. The child had early and severe clinical and biochemical manifestations. indomethacin treatment effectively controlled the increased prostaglandin excretion but corrected only partially the potassium and the calcium losses. The child developed during treatment high serum calcium levels which were associated with high parathyroid hormone and calcitriol serum levels.
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10/13. Idiopathic hypercalciuria associated with hyperreninemia and high urinary prostaglandin E.

    A patient with idiopathic hypercalciuria and some features suggestive of Bartter syndrome is reported. Excessive urinary prostaglandin E (PGE) excretion and renal calcium leak were documented in this child. Treatment with aspirin and indomethacin reduced urinary PGE excretion and was associated with a decrease in daily calcium excretion. At the lowest levels of urinary PGE, the renal calcium leak was no longer evident although mild hypercalciuria persisted. These results suggest that PGE may play a role in some cases of idiopathic hypercalciuria.
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