Cases reported "Bartter Syndrome"

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11/27. Pseudo-bartter syndrome in a pregnant mother and her fetus.

    Pseudo-bartter syndrome presents the same clinical and biological characteristics as bartter syndrome but without primary renal tubule abnormalities. We relate the case of a premature baby presenting at birth with severe hypokalemic metabolic alkalosis associated with hyponatremia and hypochloremia. Maternal blood at the time of delivery showed the same electrolyte perturbations. The baby's mother had suffered from anorexia and vomiting during pregnancy. A few weeks after birth the baby's blood abnormalities had almost returned to normal. Chloride depletion is at the origin of both maternal and fetal hypokalemic alkalosis.
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12/27. 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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13/27. Variant of Bartter's syndrome with a distal tubular rather than loop of henle defect.

    A 19-year-old normotensive patient had all of the clinical features of Bartter's syndrome: hypokalemia, elevated renin and aldosterone levels and increased excretion of prostaglandin E. In contrast to the patients described by Bartter, the patient had a normal capacity to form solute-free water, suggesting intact loop of henle function. Baseline potassium and chloride excretion rates were higher than those observed in 5 normal subjects, but the response to intravenous chlorothiazide, a drug which acts in the early distal convolute tubule, was abnormal. While chloride excretion rose by only 61% in this patient, it increased sixfold in the normal subjects. sodium excretion quadrupled in the controls but less than doubled in this patients. Roughly equivalent increments in potassium excretion occurred in normals and controls, suggesting that the patient's distal potassium-secretory mechanism was intact. review of the literature indicates that whether the site of the abnormal renal tubular potassium (chloride) leak is the proximal tubule, the loop of henle or the distal convoluted tubule, patients may achieve features indistinguishable from those previously reported as characteristic for Bartter's syndrome. If loop of henle malfunction is required to diagnose classical Bartter's syndrome, then our patient (and several reported elsewhere) has a variant form.
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14/27. Bartter's syndrome with a salt reabsorption defect in the cortical part of Henle's loop.

    The pathogenesis of Bartter's syndrome remains uncertain. The prevailing theory postulates a defect in salt reabsorption, more frequently described in the thick ascending limb of Henle's loop. The patient we studied presents a normal urinary concentration capacity associated with impaired dilution, a free water clearance at the lower end of normal (5.4 ml/min/100 ml glomerular filtrate), a decreased distal fractional chloride reabsorption (54%) when studied during hypotonic saline diuresis, and a normal decrease in free water clearance after furosemide (2.1 ml/min/100 ml glomerular filtrate), suggesting a defect in the cortical part of Henle's loop. When studied during oral water diuresis, the fractional chloride reabsorption was normal (82%). This could be explained by a relative inability of the cortical diluting segment to reach maximal absorptive rates for NaCl. An inappropriate kaliuria related to an excessive delivery of salt load to the distal tubule is suggested by the correlation between urinary potassium and chloride excretion (r = 0.84; p less than 0.001). aldosterone secretion participates also partially in the urinary potassium loss.
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15/27. A hitherto unreported case of 21-hydroxylase deficiency associated with Bartter's syndrome and a balanced 6-9 translocation.

    A description is given of a girl with the non-salt-losing type of congenital adrenal hyperplasia (CAH) and with Bartter's syndrome. In addition, the patient had a balanced translocation between 6q and 9p. Although the possibility cannot be ruled out fully that an excess of progesterone might modify the renin-aldosterone axis to some extent, the finding that dexamethasone therapy improved the clinical features of CAH but failed to correct metabolic disorders in electrolyte balance strongly suggests the coexistence of the two clinical entities. Chloride transport at the distal tubule was impaired moderately in the patient, which suggests that her defective reabsorption of chloride was responsible for the impaired renal handling of sodium that is often observed in patients with Bartter's syndrome. It appears that the reciprocal translocation is unrelated to both CAH and Bartter's syndrome since the same translocation was found in her healthy mother and siblings.
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16/27. Bartter's syndrome due to a defect in salt reabsorption in the distal convoluted tubule.

    Bartter's syndrome is generally attributed to a primary defect in salt reabsorption either in the ascending limb of Henle's loop or in the proximal tubule. 2 siblings presented here have all the clinical and biochemical features of Bartter's syndrome but seem to have defective salt reabsorption in the distal convoluted tubule. A surreptitious use of diuretics was ruled out. Free water clearance was reduced in both patients and also was low after the addition of furosemide when compared with controls. urine osmolalities following overnight dehydration were 883 and 1,000 mosm/l. The reduced maximal free water clearance argues against a proximal defect, and the normal urine concentration against a Henle's loop defect. Low free water clearance after furosemide suggests a defect in the distal convoluted tubule.
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17/27. Hyperreninemia, lysozymuria, and erythrocytosis in fanconi syndrome with medullary cystic kidney.

    adult onset fanconi syndrome with medullary cystic kidney was diagnosed in a 30-year-old male with muscular weakness, hypokalemia, normal BP, hyperreninemia, and secondary aldosteronism. He also had non-specific aminoaciduria, lysozymuria, and beta 2-microglobulinuria. Urinary concentrating and acidifying capacity was impaired, and both sodium and potassium were lost into the urine. I.v. pyelography revealed medullary cystic kidney. Renal biopsy showed juxtaglomerular hyperplasia, heavy subintimal deposits and C3 and IgG in preglomerular arteriolar walls, and degenerative changes in the tubules, including loss of brush border and "macula densa-like" lesions. polycythemia with elevated serum erythropoietin levels, and raised blood ACTH values with features of cortisolism were also present. indomethacin therapy decreased plasma renin activity (PRA), plasma aldosterone, and urinary loss of potassium and sodium, while serum potassium approached normal levels. metoprolol, a beta-adrenergic blocking agent, caused similar effects. Insensitivity to the pressor effect of angiotensin ii was reversed by indomethacin treatment. somatostatin infusion lowered PRA and aldosterone without affecting BP. Several biochemical aberrations of this patient resemble Bartter's syndrome, including the effect of indomethacin.
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18/27. Familial Bartter's syndrome.

    Two sisters were found to have Bartter's syndrome. Both had hypokalemia, hyperreninemia, normal BPs, and decreased pressor responses to angiotensin ii. During a water diuresis, patient 1 had an abnormally low distal tubular fractional reabsorption of chloride initially, but this normalized after hypokalemia was corrected for one year. Patient 2 had no demonstrable defect in chloride transport. hypokalemia in Bartter's syndrome may be caused by some hereditary mechanisms other than defective reabsorption of chloride in the distal tubules.
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19/27. Asymptomatic Bartter's syndrome.

    A 63-year-old man had asymptomatic Bartter's syndrome, discovered during evaluation for hypokalemia. Elevated plasma renin and aldosterone levels, angiotension resistance, and elevated urinary prostaglandin excretion were noted. Tubular function studies implicated the proximal tubule as the site of a mild sodium reabsorption defect, and renal wasting of potassium and magnesium were also noted. indomethacin therapy lowered the urinary prostaglandin excretion and the renin and aldosterone levels but did not correct the hypokalemia. spironolactone therapy resulted in normalization of serum potassium but not serum magnesium levels. Bartter's syndrome may result from various causes but renal wasting of sodium, potassium and/or magnesium probably exist in all cases. Unexplained, asymptomatic hypokalemia in any age group may be due to Bartter's syndrome.
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20/27. The renal tubular defect of Bartter's syndrome.

    The site of reduced electrolyte transport in Bartter's syndrome (BS) was studied with a new technique whereby resorption can be separately measured as equivalent volumes of free water generated along the ascending limb of Henle's loop (CH2O-HL) and cortical distal tubule (CH2O-DT): the fractional proximal resorption (FPR) and the volume of free water dissipated along collecting ducts (CD) by back diffusion (CH2O-BD) in the absence of ADH are also measured during maximal water diuresis. Data are expressed as ml . min-1 GFR-1 . 100. The studies were performed on 2 brothers with all clinical and laboratory features of BS. They achieved external Na balance within 3 days when placed on either 10, 100, or 230 mEq Na daily. With the 100-mEq-Na diet indomethacin caused a stable 1.5 kg weight gain. FPR was 0.69 in normal controls (NC), 0.77 in BS; CH2O-HL 16.7 vs. 16.4; CH2O-DT 9.7 vs. 3.9; CH2O-BD 13.8 vs. 13.8; CH2O (free water excretion) 12.5 vs. 6.1; urine flow rate (V) 17.6 vs. 9.9. Thus, BS is characterized by a slight fall in proximal delivery, normal HLNa transport, a striking impairment of DTNa transport and preserved interstitial hypertonicity which drives a normal osmotic flow of CH2O-BD. aspirin injected intravenously during water load affected CH2O and V in proportion to the change in GFR, which fell from 145 /- 19 to 114 /- 12 ml . min-1, p less than 0.01). Thus, the primary abnormality of BS is impaired Na transport along the early portion of the distal tubule. This is compensated by volume contraction attended by reduced proximal delivery and full activation of renin-angiotensin-aldosterone system. Consequently, more distal cation exchange sites reclaim Na at the expenses of excessive K and H losses, trapping NH4Cl within tubular lumen and generating hypokalemic metabolic alkalosis. The excess angiotensin is counterbalanced by increased prostaglandin (PG) secretion, which brings renal vascular resistances toward normal and causes tachyphylaxis to angiotensin. Inhibition of PG synthesis leads to a fall in GFR and proximal delivery: this causes distal delivery to fall below reabsorptive capacity for Na: therefore both Na and K retention ensues causing partial volume reexpansion till a new balance is established. PGs do not affect either Na or Cl resorption in BS except by a purely hemodynamic action.
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