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1/3. Idiopathic external root resorption associated to hypercalciuria.

    Although external root resorption (ERR) is a physiological process in deciduous dentition, it is very infrequent in permanent dentition - where the phenomenon is related to the existence of inadequate occlusal forces, periodontal pathology and microtraumatisms, etc. However, in many cases root resorption cannot be attributed to any concrete cause; such cases are defined as idiopathic external root resorption (IERR). Epidemiological studies have found that the underlying cause can only be established in 5% of all ERR. The present study describes three cases of IERR with different degrees of involvement and associated to mild calciuria and a history of nephrolithiasis. hypercalciuria with normal blood calcium levels is usually idiopathic and exhibits a familial trait, with a prevalence of 20-40 cases per 1,000 individuals in adults. A form of hypercalciuria associated to nephrolithiasis with a mutation of the CLCN5 gene has been identified, involving low molecular weight proteinuria - though this mutation has not been uniformly demonstrated in most cases of idiopathic hypercalciuria. The peculiarity of the cases described in the present study is attributable to the coexistence of IERR with normocalcemic hypercalciuria and nephrolithiasis - thus pointing to the need for in-depth evaluation of the possible association of these three clinical situations.
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keywords = nephrolithiasis
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2/3. Hypocitraturic and hypercalciuric renal tubular acidosis with nephrocalcinosis in a 4-year-old boy.

    A 4-year-old boy suffering from hypocitraturic and hypercalciuric renal tubular acidosis with nephrolithiasis and nephrocalcinosis is reported. Renal function tests indicated that the patient had type 1 renal tubular acidosis. potassium citrate rather than potassium bicarbonate, sodium citrate or bicarbonate is the preferred treatment for stones in RTA-I.
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keywords = nephrolithiasis
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3/3. 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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ranking = 0.33333333333333
keywords = nephrolithiasis
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