Please use this identifier to cite or link to this item:
|Title:||Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study.|
Cause of Death
Enzyme Replacement Therapy
Severity of Illness Index
|Abstract:||To report clinical characteristics and medical history data obtained retrospectively for a large cohort of pediatric patients with perinatal and infantile hypophosphatasia. Medical records from academic medical centers known to diagnose and/or treat hypophosphatasia were reviewed. Patients born between 1970 and 2011 with hypophosphatasia and any of the following signs/symptoms at age Forty-eight patients represented 12 study sites in 7 countries; 13 patients were alive, and 35 were dead (including 1 stillborn). Chest deformity, respiratory distress, respiratory failure (as conditioned by the eligibility criteria), failure to thrive, and elevated calcium levels were present in >70% of patients between birth and age 5 years. Vitamin B6-dependent seizures and respiratory distress and failure were associated significantly (P 70% of patients between birth and age 5 years. Vitamin B6-dependent seizures and respiratory distress and failure were associated significantly (P Patients with perinatal or infantile hypophosphatasia and vitamin B6-dependent seizures, with or without significant respiratory distress or chest deformities, have high morbidity and mortality in the first 5 years of life. ClinicalTrials.gov: NCT01419028.|
|Appears in Collections:||Fundaciones e Institutos de Investigación > FIB H. Infantil U. Niño Jesús > Artículos|
Files in This Item:
The file with the full text of this item is not available due to copyright restrictions or because there is no digital version. Authors can contact the head of the repository of their center to incorporate the corresponding file.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.