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Renal-nonresponsive, bone-responsive pseudohypoparathyroidism. A case with normal vitamin D metabolite levels and clinical features of rickets.

Abstract
Clinical signs of rickets developed in a previously healthy 13-year-old girl with normal features. She had hypocalcemia, hyperphosphatemia, elevated alkaline phosphatase and parathyroid hormone levels, and normal vitamin D metabolite levels, with osteitis fibrosa cystica on bone biopsy specimen. Her renal function was normal. Treatment with 1 microgram of calcitriol each day resulted in symptomatic and clinical relief and improvement of the serum chemical values. This patient probably has pseudohypoparathyroidism type 1, with renal nonresponsiveness and bone responsiveness. This disorder has the clinical features of rickets, but represents hyperparathyroid bone disease.
AuthorsS Dabbagh, R W Chesney, L O Langer, H F DeLuca, E F Gilbert, J H DeWeerd Jr
JournalAmerican journal of diseases of children (1960) (Am J Dis Child) Vol. 138 Issue 11 Pg. 1030-3 (Nov 1984) ISSN: 0002-922X [Print] United States
PMID6548601 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
Chemical References
  • Parathyroid Hormone
  • Phosphates
  • Vitamin D
  • Calcitriol
Topics
  • Adolescent
  • Bone and Bones (pathology)
  • Calcitriol (therapeutic use)
  • Diagnosis, Differential
  • Female
  • Humans
  • Hypocalcemia (etiology)
  • Kidney (physiopathology)
  • Osteitis Fibrosa Cystica (diagnosis, etiology, pathology)
  • Parathyroid Hormone (metabolism)
  • Phosphates (blood)
  • Pseudohypoparathyroidism (complications, drug therapy, metabolism, physiopathology)
  • Rickets (diagnosis)
  • Vitamin D (metabolism)

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