X-linked hypophosphatemic rickets: Case report
Introduction. X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation. We present a girl with X-linked hypophosphatemic rickets (XLHR) as a consequence of de novo mutation in the PHEX gene. Ca...
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| Format: | Article |
| Language: | English |
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Serbian Medical Society
2014-01-01
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| Series: | Srpski Arhiv za Celokupno Lekarstvo |
| Subjects: | |
| Online Access: | http://www.doiserbia.nb.rs/img/doi/0370-8179/2014/0370-81791402075R.pdf |
| _version_ | 1818666098168430592 |
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| author | Radlović Vladimir Smoljanić Željko Radlović Nedeljko Leković Zoran Ristić Dragana Dučić Siniša Pavićević Polina |
| author_facet | Radlović Vladimir Smoljanić Željko Radlović Nedeljko Leković Zoran Ristić Dragana Dučić Siniša Pavićević Polina |
| author_sort | Radlović Vladimir |
| collection | DOAJ |
| description | Introduction. X-linked hypophosphatemic rickets (XLHR) is a dominant
inherited disease caused by isolated renal phosphate wasting and impairment
of vitamin D activation. We present a girl with X-linked hypophosphatemic
rickets (XLHR) as a consequence of de novo mutation in the PHEX gene. Case
Outline. A 2.2-year-old girl presented with prominent lower limb rachitic
deformity, waddling gait and disproportionate short stature (79 cm, <P5;
-1,85 SD). On the basis of hypophosphatemia, hyperphosphaturia, high serum
level of alkaline phosphatase, normal calcemia, 25(OH)D and PTH, as well as
characteristic clinical and X-ray findings, diagnosis of hypophosphatemic
rickets (HR) was made. Normal calciuria and absence of other renal tubular
disorders indicated HR as a consequence of isolated hyperphosphaturia. The
treatment (phosphate 55 mg/kg and calcitriol 35 ng/kg per day), introduced 15
month ago, resulted in a stable normalization of alkaline phosphatase and
phosphorus serum levels (with intact calcemia and calciuria), disappearance
of X-ray signs of the active rickets and improvement of the child’s
longitudinal growth (0.6 cm per month). Subsequently, by detection of already
known mutation in the PHEX gene: c.1735G>A (p.G579R) (exon 17), XLHR was
diagnosed. Analysis of the parental PHEX gene did not show the abnormality,
which indicated that the child’s XLHR was caused by de novo mutation of this
gene. Conclusion. Identification of genetic defects is exceptionally
significant for diagnosis and differential diagnosis of hereditary HR. |
| first_indexed | 2024-12-17T05:59:07Z |
| format | Article |
| id | doaj.art-cf2e9ea3227448328323372d67d2b86a |
| institution | Directory Open Access Journal |
| issn | 0370-8179 |
| language | English |
| last_indexed | 2024-12-17T05:59:07Z |
| publishDate | 2014-01-01 |
| publisher | Serbian Medical Society |
| record_format | Article |
| series | Srpski Arhiv za Celokupno Lekarstvo |
| spelling | doaj.art-cf2e9ea3227448328323372d67d2b86a2022-12-21T22:00:57ZengSerbian Medical SocietySrpski Arhiv za Celokupno Lekarstvo0370-81792014-01-011421-2757810.2298/SARH1402075R0370-81791402075RX-linked hypophosphatemic rickets: Case reportRadlović Vladimir0Smoljanić Željko1Radlović Nedeljko2Leković Zoran3Ristić Dragana4Dučić Siniša5Pavićević Polina6University Children’s Hospital, BelgradeUniversity Children’s Hospital, BelgradeUniversity Children’s Hospital, Belgrade + Faculty of Medicine, BelgradeUniversity Children’s Hospital, BelgradeUniversity Children’s Hospital, BelgradeUniversity Children’s Hospital, BelgradeUniversity Children’s Hospital, BelgradeIntroduction. X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation. We present a girl with X-linked hypophosphatemic rickets (XLHR) as a consequence of de novo mutation in the PHEX gene. Case Outline. A 2.2-year-old girl presented with prominent lower limb rachitic deformity, waddling gait and disproportionate short stature (79 cm, <P5; -1,85 SD). On the basis of hypophosphatemia, hyperphosphaturia, high serum level of alkaline phosphatase, normal calcemia, 25(OH)D and PTH, as well as characteristic clinical and X-ray findings, diagnosis of hypophosphatemic rickets (HR) was made. Normal calciuria and absence of other renal tubular disorders indicated HR as a consequence of isolated hyperphosphaturia. The treatment (phosphate 55 mg/kg and calcitriol 35 ng/kg per day), introduced 15 month ago, resulted in a stable normalization of alkaline phosphatase and phosphorus serum levels (with intact calcemia and calciuria), disappearance of X-ray signs of the active rickets and improvement of the child’s longitudinal growth (0.6 cm per month). Subsequently, by detection of already known mutation in the PHEX gene: c.1735G>A (p.G579R) (exon 17), XLHR was diagnosed. Analysis of the parental PHEX gene did not show the abnormality, which indicated that the child’s XLHR was caused by de novo mutation of this gene. Conclusion. Identification of genetic defects is exceptionally significant for diagnosis and differential diagnosis of hereditary HR.http://www.doiserbia.nb.rs/img/doi/0370-8179/2014/0370-81791402075R.pdfX-linked hypophosphatemic ricketsdiagnosticstherapy |
| spellingShingle | Radlović Vladimir Smoljanić Željko Radlović Nedeljko Leković Zoran Ristić Dragana Dučić Siniša Pavićević Polina X-linked hypophosphatemic rickets: Case report Srpski Arhiv za Celokupno Lekarstvo X-linked hypophosphatemic rickets diagnostics therapy |
| title | X-linked hypophosphatemic rickets: Case report |
| title_full | X-linked hypophosphatemic rickets: Case report |
| title_fullStr | X-linked hypophosphatemic rickets: Case report |
| title_full_unstemmed | X-linked hypophosphatemic rickets: Case report |
| title_short | X-linked hypophosphatemic rickets: Case report |
| title_sort | x linked hypophosphatemic rickets case report |
| topic | X-linked hypophosphatemic rickets diagnostics therapy |
| url | http://www.doiserbia.nb.rs/img/doi/0370-8179/2014/0370-81791402075R.pdf |
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