Albuainain, F. (Fatima) (2019) X-linked Hypophosphatemia in Children : A descriptive study in the Netherlands. thesis, Medicine.
Full text available on request.Abstract
Objective: This retrospective study describes associations between the genetic variations in XLH and their corresponding phenotypical characteristics in a paediatric population (ages 0 to 18 years) in the Netherlands. Design: Retrospective observational study Methods: A database was built including clinical findings, growth measurements SDS, and radiological and ultrasound imaging reports, and genetic testing results from patient records at the referral centre for XLH in the Netherlands, the University Medical Centre Groningen. Genetic variations were compared to variations previously reported in the literature. For quantitative data, median and interquartile ranges were reported, and for qualitative data frequencies and absolute sample sizes. Comparisons were made depending on biological gender (female vs. male), age at start of therapy (< 1 year vs. ≥ 1 year), mode of inheritance (familial vs. sporadic), and predicted effect of variant on protein (truncating vs. nontruncating). Results: In total, 39 paediatric XLH patients (22 females and 17 males) were included. Variations in PHEX were detected in 38 of these patients, including 13 variations not previously reported in the literature. The majority of variations were of familial inheritance (50%), and resulting in a truncated PHEX protein (76%). Craniosynostosis was exclusively found in male patients. Anisomelia was seen in 2 female patients. 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 the age of 1 year, and was associated with higher average treatment doses of phosphate. However, none of these differences reached statistical significance.
| Item Type: | Thesis (Thesis) |
|---|---|
| Supervisor name: | SUPERVISORS: and BOOT, DR.A.M. and DEPARTMENT OF PEDIATRICS ENDOCRINOLOGY and RUMP, DR. P. DEPARTMENT OF GENETICS. UNIVERSITY MEDICAL CENT |
| Faculty: | Medical Sciences |
| Date Deposited: | 25 Jun 2020 10:44 |
| Last Modified: | 25 Jun 2020 10:44 |
| URI: | https://umcg.studenttheses.ub.rug.nl/id/eprint/569 |
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