Albright's syndrome with rickets.
Four patients are reported who had Albright's syndrome, hypophosphatemia, and inappropriately low renal tubular reabsorption of phosphate. Three of the patients had radiologic evidence of rickets or osteomalacia, and the fourth had a bone biospy, which showed microradiographic evidence of a previous mineralization defect. Serum parathormone values were elevated before treatment in two patients. Intravenous infusions of calcium in one patient, and of calcium and parathormone in a second patient, showed appropriate target-organ responsiveness. Patients generally showed radiologic improvement of rickets after treatment with large doses of vitamin D, but such treatment failed to restore normal serum values of phosphorus and alkaline phosphatase. It is postulated that a substance elaborated from the dysplastic bone may be interfering with phosphate reabsorption in the renal tubule.
D000328:Adult; D002648:Child; D004700:Endocrine System Diseases / Q000150:complications*; D005260:Female; D005357:Fibrous Dysplasia of Bone / Q000150:complications*; D006801:Humans; D007684:Kidney Tubules / Q000378:metabolism; D008297:Male; D010018:Osteomalacia / Q000150:complications; D010281:Parathyroid Hormone / Q000097:blood; D010710:Phosphates / Q000097:blood / Q000378:metabolism; D010859:Pigmentation Disorders / Q000150:complications*; D011629:Puberty, Precocious / Q000150:complications; D012279:Rickets / Q000150:complications* / Q000188:drug therapy; D013577:Syndrome; D014807:Vitamin D / Q000627:therapeutic use
D010281:Parathyroid Hormone; D010710:Phosphates; D014807:Vitamin D