The congenital "magnesium-losing kidney". Report of two patients.
A 39-year-old man with a lifelong history of tetany and hypocalcaemia was found to have hypomagnesaemia (0.29 mmol/l) due to renal magnesium loss. His asymptomatic 29-year-old brother had a similar disorder. Both were infertile and had severe oligospermia but normal endocrine function. They had medullary nephrocalcinosis and glomerular filtration rate was reduced. Renal biopsy showed patchy interstitial fibrosis and some glomerular sclerosis. Electron microscopy showed thickened basement membranes in damaged glomeruli and in tubules in areas of fibrosis. Tests of renal tubule function were normal. Hypocalcaemia and tetany were corrected by oral magnesium supplements which raised the serum magnesium level to around 0.54 mmol/l.
D000328:Adult; D006680:HLA Antigens / Q000032:analysis; D006801:Humans; D007248:Infertility, Male / Q000150:complications; D007668:Kidney / Q000473:pathology / Q000503:physiopathology; D007674:Kidney Diseases / Q000150:complications* / Q000235:genetics; D008274:Magnesium / Q000378:metabolism*; D008277:Magnesium Oxide / Q000627:therapeutic use; D008297:Male; D008664:Metal Metabolism, Inborn Errors / Q000209:etiology* / Q000235:genetics; D015499:Renal Tubular Transport, Inborn Errors / Q000150:complications* / Q000473:pathology
D006680:HLA Antigens; D008277:Magnesium Oxide; D008274:Magnesium