Cases reported "Kidney Calculi"

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21/41. Familial renal hypouricaemia: two additional cases with uric acid lithiasis.

    Two families are reported affected with hereditary renal hypouricaemia associated with uric acid lithiasis. The propositi of both families were found also to have hyperabsorptive hypercalciuria. Based on the study of the effect of pyrazinamide and probenecid on uric acid excretion in both propositi, it is suggested that the defect in uric acid reabsorption is most probably at the pre-secretory site.
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22/41. Idiopathic hypercalciuria with bilateral macular colobomata: a new variant of oculo-renal syndrome.

    Two siblings from a consanguineous family, suffering from nephrocalcinosis and nephrolithiasis caused by idiopathic hypercalciuria are described. The condition is associated with bilateral macular colobomata and tapeto-retinal degeneration. It is known that the latter can occur together with different nephropathies; however, until now it has never been described in combination with idiopathic hypercalciuria. blood calcium levels were found to be normal, calcium excretion rates were, with one exception, more than 6 mg/kg/24 h corrected for 100 ml GFR. Hypomagnesemia of 1.5 and 1.2 mg/dl and hyermagnesuria of 1.9 and 2.5 mg/kg/24 h corrected for 100 ml GFR were found in both patients. Tubular phosphate reabsorption reached 87% and 84% at serum parathormone levels of 0.34 microgram/l and 0.31 microgram/l in the two patients, respectively. Under calcium and magnesium loading the clearance rates of calcium and magnesium were raised whilst there was only a small insignificant increase in the blood levels of these cations. Acid-base titrations showed normal excretion rates of acid and base in one patient and a mild proximal tubular acidosis in the other. Quantitative investigation of the renal concentrating and diluting capacity established a decrease in the formation of the medullary concentrating gradient in both patients.
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23/41. sodium-dependent idiopathic hypercalciuria in renal-stone formers.

    Four patients with renal stones had hypercalciuria which was dependent on a high sodium intake. Moderate sodium restriction corrected the hypercalciuria. sodium excretion should be measured in all patients with idiopathic hypercalciuria so that the easily treated sodium-dependent hypercalciuria can be diagnosed.
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keywords = hypercalciuria
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24/41. Hypercalciuric rickets: a rare cause of nephrolithiasis.

    An unusual case of rickets associated with hypercalciuria is described. In addition to proteinuria, the patient had phosphaturia, aminoaciduria, renal glucosuria and impaired renal concentration but no renal tubular acidosis. Studies did not support the diagnosis of primary hyperparathyroidism. The findings in the patient were very similar to those in 4 previously reported cases and are suggestive of a new combination of multiple renal tubular defects.
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25/41. Antacid-induced osteomalacia and nephrolithiasis.

    A 36-year-old woman suffered from bone pain, muscle weakness, and renal stones after prolonged ingestion of antacids for esophageal reflux. Investigation disclosed hypophosphatemia, hypercalciuria, and osteomalacia by bone biopsy. All symptoms and abnormal laboratory findings reversed with a regimen of oral phosphate supplementation and cessation of antacid intake.
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26/41. Unilateral and segmental medullary sponge kidney: renal function and calcium excretion.

    The renal acidification defect and renal hypercalciuria have been reported in patients with pan-renal and bilateral medullary sponge kidney. However, little is known about patients with unilateral or segmentally affected medullary sponge kidney. We report 2 cases of partially affected medullary sponge kidney with normal acidification ability and normal urinary calcium excretion, although the ability to concentrate urine was diminished. These findings suggest that in patients with partially affected medullary sponge kidney nephrolithiasis is not the consequence of renal hypercalciuria induced by systemic acidosis but is owing to the urinary stasis caused by cystic dilatation of the terminal collecting duct.
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27/41. hypercalcemia with elevated dihydroxycholecalciferol levels and hypercalciuria. A parathyroid concentration-independent mechanism.

    A 22-year-old man with renal stones had persistent hypercalcemia with massive idiopathic hypercalciuria due to a primary renal tubular phosphorus leak. He did not have hyperparathyroidism or sarcoidosis but did have an elevated dihydroxycholecalciferol level, which contributed to his hypercalcemia.
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28/41. urolithiasis in pre-term neonates associated with furosemide therapy.

    The administration of furosemide to pre-term neonates has been associated with urolithiasis. We report 1 of 2 such cases that we have managed. The etiology of these stones appears to be related to furosemide-induced hypercalciuria. Nonsurgical management with thiazide diuretics can be successful in this high risk group of patients.
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29/41. Gluconate calcium therapy and neonatal hypercalciuria.

    nephrolithiasis was present in a 2-month-old premature infant with bronchopulmonary dysplasia who had been receiving furosemide and intravenous (IV) gluconate calcium therapy. This infant was found to be hypercalciuric. furosemide therapy is known to increase calcium excretion. In the present study, we examined sick infants who were receiving gluconate calcium without furosemide to evaluate the effect of gluconate calcium therapy on urinary calcium excretion. The sick infants receiving gluconate calcium had higher values of urinary calcium than did the well infants taking regular formula feedings. Moreover, the calciuria appeared to increase progressively with continued gluconate calcium therapy. It appears that prolonged use of either furosemide or IV gluconate calcium leads to hypercalciuria, which, in turn, may predispose the premature infant to nephrolithiasis.
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ranking = 5
keywords = hypercalciuria
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30/41. Infantile idiopathic hypercalciuria, high congenital myopia, and atypical macular coloboma: a new oculo-renal syndrome?

    Four cases of infantile idiopathic hypercalciuria with high congenital myopia and atypical macular coloboma are discussed; two of them are brother and sister. The eye examination shows bilateral congenital myopia of more than 10 diopters in every case. In the fundus examination, there is a bilateral macular colobomatous lesion in two of them and monocular lesion in the remaining ones. hypercalciuria is considered to be due to renal tubulus malformation. The macular atypical coloboma etiopathogenesis is discussed, with comment on the malformative, dystrophic and inflammatory hypothesis, having discarded the usual inflammatory etiologies. We have only found two cases similar to these in the literature, Given the relative scarce occurrence of each of the three mentioned clinical features we suggest the possibility of a new oculo-renal syndrome rather than a coincidental association.
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