Cases reported "Coloboma"

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1/3. 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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keywords = hypercalciuria
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2/3. 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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ranking = 0.83333333333333
keywords = hypercalciuria
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3/3. Renal magnesium wasting with hypercalciuria, nephrocalcinosis and ocular disorders.

    We report a case of congenital magnesium-losing kidney with associated hypercalciuria and ocular derangements consisting of myopia, bilateral macular colobomata and bilateral papillary dysversion and hypoplasia. Our patient provides further evidence of the existence of an oculorenal syndrome associating abnormalities in the renal handling of magnesium and calcium, and myopia and chorioretinal disease.
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ranking = 0.83333333333333
keywords = hypercalciuria
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