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Rafaelsen S.,University of Bergen | Johansson S.,University of Bergen | Johansson S.,Center for Medical Genetics and Molecular Medicine | Raeder H.,University of Bergen | Bjerknes R.,University of Bergen
European Journal of Endocrinology | Year: 2016

Objective: Hereditary hypophosphatemias (HH) are rare monogenic conditions characterized by decreased renal tubular phosphate 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 children with HH. Design: Retrospective national cohort study. Methods: Sanger sequencing and multiplex ligand-dependent probe amplification analysis of PHEX and Sanger sequencing of FGF23, DMP1, ENPP1KL, and FAM20C were performed to assess genotype in patients with HH with or without rickets in all pediatric hospital departments across Norway. Patients with hypercalcuria were screened for SLC34A3 mutations. In one family, exome sequencing was performed. Information from the patients' medical records was collected for the evaluation of phenotype. Results: Twety-eight patients with HH (18 females and ten males) from 19 different families were identified. X-linked dominant hypophosphatemic rickets (XLHR) was confirmed in 21 children from 13 families. The total number of inhabitants in Norway aged 18 or below by 1st January 2010 was 1 109 156, giving an XLHR prevalence of w1 in 60 000 Norwegian children. FAM20C mutations were found in two brothers and SLC34A3 mutations in one patient. In XLHR, growth was compromised in spite of treatment with oral phosphate and active vitamin D compounds, with males tending to be more affected than females. Nephrocalcinosis tended to be slightly more common in patients starting treatment before 1 year of age, and was associated with higher average treatment doses of phosphate. However, none of these differences reached statistical significance. Conclusions:We present the first national cohort of HH in children. The prevalence of XLHR seems to be lower in Norwegian children than reported earlier. © 2016 The authors Published by Bioscientifica Ltd.

Hanevik K.,University of Bergen | Hanevik K.,National Center for Tropical Infectious Diseases | Bakken R.,University of Bergen | Brattbakk H.R.,University of Bergen | And 3 more authors.
Clinical Microbiology and Infection | Year: 2015

Clinical isolates from protozoan parasites such as Giardia lamblia are at present practically impossible to culture. By using simple cyst purification methods, we show that Giardia whole genome sequencing of clinical stool samples is possible. Immunomagnetic separation after sucrose gradient flotation gave superior results compared to sucrose gradient flotation alone. The method enables detailed analysis of a wide range of genes of interest for genotyping, virulence and drug resistance. © 2014 European Society of Clinical Microbiology and Infectious Diseases.

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