OBJECTIVE: @entity74 are rare monogenic conditions characterized by decreased renal tubular @entity4613 reabsorption. The aim of this study was to explore the prevalence, genotypes, phenotypic spectrum, treatment response and complications of treatment in the Norwegian population of @entity1 with @entity74 . DESIGN: Retrospective national cohort study. METHODS: Sanger sequencing and multiplex ligand-dependent probe amplification (MLPA) analysis of @entity15396 , and Sanger sequencing of @entity11648 , @entity21954 , @entity22347 KL and @entity20923 were performed to assess genotype in @entity1 with @entity74 with or without rickets in all pediatric hospital departments across Norway. @entity1 with hypercalcuria were screened for @entity41616 mutations. In one family exome sequencing was performed. Information from the @entity1 ' medical records was collected for the evaluation of phenotype. RESULTS: 28 @entity1 with @entity74 (18 female, 10 male) from 19 different families were identified. @entity12145 ( @entity12145 ) was confirmed in 21 @entity1 from 13 families. The total number of inhabitants in Norway aged 18 or below by January 1st, 2010 was 1.109,156, giving an @entity12145 prevalence of approximately 1 in 60.000 Norwegian @entity1 . @entity20923 mutations were found in two brothers, and @entity41616 mutations in one @entity1 . In @entity12145 growth was compromised in spite of treatment with oral @entity4613 and active @entity560 compounds, with males tending to be more affected than females. @entity11604 was slightly more common in @entity1 starting treatment before one year of age, and was associated with higher average treatment doses of @entity4613 . However, none of these differences reached statistical significance. CONCLUSIONS: We present the first national cohort of @entity74 in @entity1 . The prevalence of @entity12145 seems to be lower in Norwegian @entity1 than reported earlier.

XXXX in Norway; a retrospective population-based study of genotypes, phenotypes and treatment complications.

@entity1 :: ('9606', 'Species') :: ['children', 'Patients', 'patients', 'patient'] @entity12145 :: ('MESH:D053098', 'Disease') :: ['XLHR', 'X-linked dominant hypophosphatemic rickets'] @entity20923 :: ('56975', 'Gene') :: ['FAM20C'] @entity22347 :: ('5167', 'Gene') :: ['ENPP1'] @entity41616 :: ('142680', 'Gene') :: ['SLC34A3'] @entity4613 :: ('D010710', 'Chemical') :: ['phosphate'] @entity11648 :: ('8074', 'Gene') :: ['FGF23'] @entity11604 :: ('MESH:D009397', 'Disease') :: ['Nephrocalcinosis'] @entity15396 :: ('5251', 'Gene') :: ['PHEX'] @entity21954 :: ('1758', 'Gene') :: ['DMP1'] @entity74 :: ('MESH:D030342', 'Disease') :: ['hereditary hypophosphatemia', 'Hereditary hypophosphatemias'] @entity560 :: ('MESH:D014807', 'Chemical') :: ['vitamin D']
@entity74 :: (MESH:D030342,Disease) :: ['Hereditary hypophosphatemia']
