Pseudohypoparathyroidism – epidemiology, mortality and risk of complications

摘要: OBJECTIVE Pseudohypoparathyroidism (PHP) is caused by a mutation within the GNAS gene or upstream of complex locus. It characterized target organ resistance to PTH, resulting in hypocalcaemia and hyperphosphataemia. Studies patients with PHP are limited. We sought identify all Denmark access their mortality data risk complications. DESIGN Patients were identified through Danish National Patient Registry prescription database, subsequent validation investigation patient charts. METHODS For each case, three age- (±2 years) gender-matched controls randomly selected from general background population. total 60 cases, equal prevalence 1·1/100 000 inhabitants. The average age at diagnosis was 13 years (range 1-62 years), 42 women. Only 14 had an GNAS1 gene. RESULTS Compared controls, increased neuropsychiatric disorders (P < 0·01), infections seizures 0·01) cataract whereas renal, cardiovascular, malignant fractures compatible same tendencies found subgroup analysis cases genetically verified PHP. CONCLUSION have disorders, infections, seizures, among that