Pseudohypoparathyroidism

• Autores: Agnès Linglart, Michael A. Levine, Harald Jüppner
• Localización: Endocrinology and metabolism clinics of North America, ISSN 0889-8529, Vol. 47, Nº. 4, 2018 (Ejemplar dedicado a: Hypoparathyroidism), págs. 865-888
• Idioma: inglés
• Texto completo no disponible (Saber más ...)
• Resumen

  • Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of uncommon, yet related metabolic disorders that are characterized by impaired activation of the Gsα/cAMP/PKA signaling pathway by parathyroid hormone (PTH) and other hormones that interact with Gsa-coupled receptors. Proximal renal tubular resistance to PTH and thus hypocalcemia and hyperphosphatemia, frequently in presence of brachydactyly, ectopic ossification, early-onset obesity, or short stature are common features of PHP. Registries and large cohorts of patients are needed to conduct clinical and genetic research, to improve the still limited knowledge regarding the underlying disease mechanisms, and allow the development of novel therapies.