[Familial tubulopathy associating hypercalciuria and saline diabetes. Favorable results of indomethacin therapy].
The association of hypercalciuria, salt losing renal disease, and a defect in urine concentrating ability with high renin and aldosterone levels is described in two brothers. One child had marked nephrocalcinosis by the age of 3 and the other severe growth retardation. In one child all the abnormalities were abolished with indomethacin which was responsible for a marked decrease in urinary. The data and the family study suggest that this condition is a proximal tubular disorder with atuosomal recessive inheritance.
D000450:Aldosterone / Q000378:metabolism*; D002128:Calcium Metabolism Disorders / Q000188:drug therapy / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003919:Diabetes Insipidus / Q000209:etiology / Q000235:genetics*; D006801:Humans; D007010:Hyponatremia / Q000209:etiology*; D007213:Indomethacin / Q000627:therapeutic use*; D007223:Infant; D007687:Kidney Tubules, Proximal; D008297:Male; D009318:Natriuresis; D009397:Nephrocalcinosis / Q000209:etiology; D010375:Pedigree; D015499:Renal Tubular Transport, Inborn Errors / Q000188:drug therapy / Q000235:genetics*; D012083:Renin / Q000378:metabolism
D000450:Aldosterone; D012083:Renin; D007213:Indomethacin
Tubulopathie familiale associant hypercalciurie et diabète sodé. Succès de l'indométacine.