HYPOPHOSPHATEMIC OSTEOMALACIA AND FANCONI SYNDROME OF ADULT ONSET WITH DOMINANT INHERITANCE - POSSIBLE RELATIONSHIP WITH DIABETES-MELLITUS

  • 1 January 1976
    • journal article
    • research article
    • Vol. 45  (179) , 387-400
Abstract
Adult-onset osteomalacia with multiple renal tubular defects and generalized aminoaciduria is uncommon, and where familial it is characteristically an autosomal recessive disorder. The syndrome has appeared in 4 successive generations, apparently inherited in a dominant manner, and possibly associated with diabetes mellitus. The proposita had hypophosphatemia, renal glycosuria, proteinuria and generalized aminoaciduria, and at the age of 22 developed symptoms of osteomalacia which responded to treatment with oral phosphate. Her father was similarly affected: renal glycosuria was 1st noted when he was 24, and 12 yr later he developed diabetes mellitus from which he died. One sister, aged 31, has renal glycosuria, aminoaciduria and hypophosphatemia without bone disease. In the 3 preceding generations at least 7 other individuals had crippling bone disease and profound muscle weakness of early adult onset; in 4, preterminal polydipsia was recorded, and others had renal glycosuria or diabetes mellitus. Three of the 5 children in the latest generation have slight proteinuria but no other detectable abnormality. The possible association between these renal tubular defects and diabetes mellitus was discussed.