Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings.
Polyuria, hyposthenuria, hypomagnesemia, hypercalciuria, advanced nephrocalcinosis, low citrate excretion and low glomerular filtration rates were observed in two female siblings who were followed over 10 years. Acid loading revealed incomplete distal tubular acidosis. Hypomagnesemia was due to renal magnesium wasting. It is suggested that the defect in tubular transport of magnesium is an important factor in the pathogenesis of this syndrome.
D000141:Acidosis, Renal Tubular / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002118:Calcium / Q000652:urine*; D002951:Citrates / Q000652:urine; D005260:Female; D005919:Glomerular Filtration Rate; D006801:Humans; D008274:Magnesium / Q000652:urine*; D009397:Nephrocalcinosis / Q000235:genetics*; D011141:Polyuria / Q000235:genetics; D015499:Renal Tubular Transport, Inborn Errors / Q000235:genetics*
D002951:Citrates; D008274:Magnesium; D002118:Calcium