title: Cinacalcet as adjunctive therapy in pseudohypoparathyroidism type 1b.
abstract: BACKGROUND
  In patients with pseudohypoparathyroidism type 1b (PHP1b) due to a tissue-specific imprinting defect in the G-protein α-subunit, skeletal disorders can arise from the bones being sensitive to parathyroid hormone (PTH) while the kidneys remain resistant to this hormone.
  
  
  METHODS
  We report a 4.8-year-old girl with PHP1b who presented with an abnormal gait, severe skeletal changes and elevated levels of serum PTH (2844 pg/ml), phosphate (7.2 mg/dl) and bone turnover markers. Traditional treatment with calcium and calcitriol failed to suppress PTH secretion, which was still elevated at 2877 pg/ml after 14 months of therapy, nor did it correct the other clinical, biochemical and radiographic abnormalities. The addition of cinacalcet to the treatment regimen over the subsequent 32 months resulted in normalization of serum PTH (58 ng/ml), phosphate (4.9 mg/dl) and bone turnover markers, and resolution of the radiographic changes, with no adverse effects noted.
  
  
  CONCLUSIONS
  Due to its ease of administration, we recommend the addition of cinacalcet into the armamentarium of medications available to treat children with PHP1b.
authors.affiliation: Bone and Mineral Disorder Clinic, Section of Nephrology, The Children's Mercy Hospitals and Clinics, University of Missouri at Kansas City, 2401 Gillham Road, Kansas City, MO, 64108, USA.|Renal Research Laboratory, Research and Development, Kansas City VA Medical Center, Kansas City, MO, 64128, USA.
authors.forename: Tarak
authors.initials: T
authors.lastname: Srivastava
authors.affiliation: Bone and Mineral Disorder Clinic, Section of Nephrology, The Children's Mercy Hospitals and Clinics, University of Missouri at Kansas City, 2401 Gillham Road, Kansas City, MO, 64108, USA.
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Krudys
authors.affiliation: Department of Radiology, The Children's Mercy Hospitals and Clinics, University of Missouri at Kansas City, Kansas City, MO, 64108, USA.
authors.forename: Neil J
authors.initials: NJ
authors.lastname: Mardis
authors.affiliation: Bone and Mineral Disorder Clinic, Section of Nephrology, The Children's Mercy Hospitals and Clinics, University of Missouri at Kansas City, 2401 Gillham Road, Kansas City, MO, 64108, USA.
authors.forename: Judith
authors.initials: J
authors.lastname: Sebestyen-VanSickle
authors.affiliation: Bone and Mineral Disorder Clinic, Section of Nephrology, The Children's Mercy Hospitals and Clinics, University of Missouri at Kansas City, 2401 Gillham Road, Kansas City, MO, 64108, USA. ualon@cmh.edu.
authors.forename: Uri S
authors.initials: US
authors.lastname: Alon
mesh_terms: D015415:Biomarkers / Q000097:blood; D016723:Bone Remodeling / Q000187:drug effects*; D057966:Calcimimetic Agents / Q000627:therapeutic use*; D002117:Calcitriol / Q000627:therapeutic use; D002118:Calcium / Q000097:blood / Q000627:therapeutic use; D002675:Child, Preschool; D002864:Chromogranins / Q000235:genetics; D000069449:Cinacalcet / Q000627:therapeutic use*; D019175:DNA Methylation; D019587:Dietary Supplements; D005091:Exons; D005260:Female; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D010281:Parathyroid Hormone / Q000097:blood; D010641:Phenotype; D010710:Phosphates / Q000097:blood; D011547:Pseudohypoparathyroidism / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D013997:Time Factors; D016896:Treatment Outcome; D015854:Up-Regulation
chemical_list: D015415:Biomarkers; D057966:Calcimimetic Agents; D002864:Chromogranins; C470125:PTH protein, human; D010281:Parathyroid Hormone; D010710:Phosphates; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs; D002117:Calcitriol; D002118:Calcium; D000069449:Cinacalcet
keywords: Bone turnover markers; Calcium sensing receptor; Cinacalcet; Parathyroid hormone; Pseudohypoparathyroidism type1b