title: Renal magnesium wasting with hypercalciuria, nephrocalcinosis and ocular disorders.
abstract: 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.
authors.affiliation: Department of Nephrology, San Carlos University Hospital, Madrid, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Torralbo
authors.forename: E
authors.initials: E
authors.lastname: Pina
authors.forename: J
authors.initials: J
authors.lastname: Portolés
authors.forename: A
authors.initials: A
authors.lastname: Sánchez-Fructuoso
authors.forename: A
authors.initials: A
authors.lastname: Barrientos
mesh_terms: 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
chemical_list: D002118:Calcium