title: Hypercalciuric rickets: metabolic studies and pathophysiological considerations.
abstract: Extensive metabolic studies were performed in a 14-year-old boy suffering from the rare clinical entity known as childhood idiopathic hypercalciuria associated with dwarfism, renal tubular abnormalities and bone lesions. The salient features were: hyperphosphaturia with hypophosphatemia, hypercalciuria with normocalcemia, elevated serum 1,25-dihydroxycholecalciferol[1,25(OH)2D3] levels, marked intestinal hyperabsorption of calcium and phosphorus, with low serum parathyroid hormone (PTH) and urinary adenosine 3':5'-cyclic monophosphate (c-AMP). Bone biopsy confirmed the clinical and radiological diagnosis of rickets. It appears that the following pathophysiological sequence is operating: primary renal phosphate leak with hypophosphatemia, increased 1,25(OH)2D3 synthesis, enhanced intestinal calcium absorption which in turn inhibits release of PTH and c-AMP. Hypercalciuria is seen to be secondary to both avid intestinal calcium absorption and depressed PTH activity, and rickets the result of phosphate depletion. Treatment with oral phosphorus only resulted in an acceleration of growth rate, cure of rickets, and return of urinary calcium excretion to normal values.
authors.forename: M
authors.initials: M
authors.lastname: Tieder
authors.forename: R
authors.initials: R
authors.lastname: Samuel
authors.forename: U A
authors.initials: UA
authors.lastname: Liberman
authors.forename: R
authors.initials: R
authors.lastname: Arie
authors.forename: A
authors.initials: A
authors.lastname: Halabe
authors.forename: D
authors.initials: D
authors.lastname: Gabizon
authors.forename: Y
authors.initials: Y
authors.lastname: Maor
authors.forename: N
authors.initials: N
authors.lastname: Halperin
authors.forename: L
authors.initials: L
authors.lastname: Capeliovitch
authors.forename: D
authors.initials: D
authors.lastname: Modai
mesh_terms: D000293:Adolescent; D002117:Calcitriol / Q000097:blood; D002118:Calcium / Q000652:urine*; D002128:Calcium Metabolism Disorders / Q000188:drug therapy / Q000378:metabolism* / Q000503:physiopathology; D000242:Cyclic AMP / Q000652:urine; D004392:Dwarfism / Q000378:metabolism; D006801:Humans; D007408:Intestinal Absorption; D007684:Kidney Tubules / Q000503:physiopathology; D008297:Male; D010281:Parathyroid Hormone / Q000097:blood; D010710:Phosphates / Q000378:metabolism; D010758:Phosphorus / Q000627:therapeutic use; D012279:Rickets / Q000188:drug therapy / Q000378:metabolism* / Q000503:physiopathology
chemical_list: D010281:Parathyroid Hormone; D010710:Phosphates; D010758:Phosphorus; D000242:Cyclic AMP; D002117:Calcitriol; D002118:Calcium