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.
Torralbo
A
A
Department of Nephrology, San Carlos University Hospital, Madrid, Spain.
Pina
E
E
Portolés
J
J
Sánchez-Fructuoso
A
A
Barrientos
A
A
D000328:Adult; D002118:Calcium / Q000652:urine*; D003103:Coloboma / Q000150:complications; D005128:Eye Diseases / Q000150:complications*; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000150:complications* / Q000378:metabolism; D008266:Macula Lutea / Q000002:abnormalities; D008275:Magnesium Deficiency / Q000150:complications*; D009216:Myopia / Q000150:complications; D009397:Nephrocalcinosis / Q000150:complications*; D009898:Optic Disk / Q000002:abnormalities; D013577:Syndrome
D002118:Calcium