Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation
<h3>Background</h3><p dir="ltr">Vitamin D regulates the concentrations of calcium and phosphate in blood and promotes the growth and remodeling of bones. The circulating active form of vitamin D, 1,25-dihydroxyvitamin D, binds to the vitamin D receptor (VDR), which hetero...
محفوظ في:
| المؤلف الرئيسي: | |
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| مؤلفون آخرون: | , , , , , , |
| منشور في: |
2018
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| الموضوعات: | |
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إضافة وسم
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| الملخص: | <h3>Background</h3><p dir="ltr">Vitamin D regulates the concentrations of calcium and phosphate in blood and promotes the growth and remodeling of bones. The circulating active form of vitamin D, 1,25-dihydroxyvitamin D, binds to the vitamin D receptor (VDR), which heterodimerizes with the retinoid X receptor to regulate the expression of target genes. Inactivating mutations in the <i>VDR</i> gene cause hereditary vitamin D-resistant rickets (HVDRR), a rare disorder characterized by an early onset of rickets, growth retardation, skeletal deformities, hypocalcemia, hypophosphatemia and secondary hyperparathyroidism, and in some cases alopecia.</p><h3>Methods</h3><p dir="ltr">We describe eight new HVDRR patients from four unrelated consanguineous families. The <i>VDR</i> gene was sequenced to identify mutations. The management of patients over a period of up to 11 years following the initial diagnosis is assessed.</p><h3>Results</h3><p dir="ltr">Although all patients exhibit main features of HVDRR and carry the same c.885C>A (p.Y295*) loss of function mutation in the <i>VDR</i> gene, there was heterogeneity of the manifestations of HVDRR-associated phenotypes and developmental milestones. These eight patients were successfully treated over a period of 11 years. All clinical symptoms were improved except alopecia.</p><h3>Conclusions</h3><p dir="ltr">The study concludes that <i>VDR</i> sequencing and laboratory tests are essential to confirm HVDRR and to assess the effectiveness of the treatment.</p><h2>Other information</h2><p dir="ltr">Published in: Journal of Pediatric Endocrinology and Metabolism<br>License: <a href="http://creativecommons.org/licenses/by/4.0" target="_blank">http://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="http://dx.doi.org/10.1515/jpem-2017-0312" target="_blank">http://dx.doi.org/10.1515/jpem-2017-0312</a></p> |
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