[Congenital tubulopathy with magnesium loss]

Abstract

The authors report on a 1-year old girl who presented with transient hypotonia and polydipsia related to renal-concentrating defect. Renal magnesium and calcium wasting were noted when the subject was 3.5 years old, in association with distal tubular acidosis and nephrocalcinosis. Hypocalcemia and hypomagnesiemia persisted when the patient was 9.5 years old. About 50 cases of tubular defects with renal magnesium loss have been reported in the literature and show that magnesium loss may be either isolated or associated with potassium and/or calcium wasting. This hereditary defect may be due to an alteration in magnesium reabsorption in the thick ascending limb of the loop of Henle.