Pseudohypoparathyroidism is a rare endocrine disorder with an estimated prevalence of 1/100,000. It is characterized by hypocalcemia and hyperphosphatemia in the absence of vitamin D deficiency or impaired renal function. Research studies during the last 20 years have led to the identification of the molecular underlying cause of the disease, the characterization of the clinical and biochemical characteristics and the observation of an overlap between genetic and clinical manifestations. The creation of networks both for specialists (including endocrinologists, pediatricians, dermatologists, geneticists, molecular biologists…) and patients support groups brings up the opportunity of research advance, synergism and common objectives for families and investigators, improving the quality of information about the disease and its outcome, that, at the end, will improve both the knowledge and life of the patients and their families.
The Importance of Networking in Pseudohypoparathyroidism: EuroPHP Network and Patient Support Associations / A. Linglart, G. Mantovani, I. Garin, A. Usardi, F. Elli, G. de Nanclares. - In: PEDIATRIC ENDOCRINOLOGY REVIEW. - ISSN 1565-4753. - 15:Suppl. 1(2017 Sep), pp. 92-97. [10.17458/per.vol15.2017.lmg.pseudohypoparathyroidism]
The Importance of Networking in Pseudohypoparathyroidism: EuroPHP Network and Patient Support Associations
G. MantovaniCo-primo
Writing – Review & Editing
;F. ElliPenultimo
Writing – Original Draft Preparation
;
2017
Abstract
Pseudohypoparathyroidism is a rare endocrine disorder with an estimated prevalence of 1/100,000. It is characterized by hypocalcemia and hyperphosphatemia in the absence of vitamin D deficiency or impaired renal function. Research studies during the last 20 years have led to the identification of the molecular underlying cause of the disease, the characterization of the clinical and biochemical characteristics and the observation of an overlap between genetic and clinical manifestations. The creation of networks both for specialists (including endocrinologists, pediatricians, dermatologists, geneticists, molecular biologists…) and patients support groups brings up the opportunity of research advance, synergism and common objectives for families and investigators, improving the quality of information about the disease and its outcome, that, at the end, will improve both the knowledge and life of the patients and their families.File | Dimensione | Formato | |
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