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Cinacalcet as adjunctive therapy in pseudohypoparathyroidism type 1b
Tarak Srivastava1,2, Jeffrey Krudys1, Neil J Mardis3
1Bone 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.
Cinacalcet effectively treated a child with pseudohypoparathyroidism type 1b (PHP1b), normalizing parathyroid hormone (PTH) levels and skeletal abnormalities when standard therapies failed. This offers a new treatment option for pediatric PHP1b.
Area of Science:
- Pediatric Endocrinology
- Skeletal Dysplasias
- Genetics and Epigenetics
Background:
- Pseudohypoparathyroidism type 1b (PHP1b) involves a tissue-specific imprinting defect affecting G-protein α-subunit signaling.
- Patients experience bone sensitivity to parathyroid hormone (PTH) alongside kidney resistance, leading to skeletal disorders.
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