Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings.

Autor:	Ghazi AA; Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran., Zadeh-Vakili A; Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran., Zarif Yeganeh M; Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran., Alamdari S; Medical Research Development Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran., Amouzegar A; Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran., Khorsandi AA; Department of Orthopedics, Shafa Yahyaian Hospital, Iran University of Medical Sciences, Tehran, IR Iran., Amirbaigloo A; Endocrinologist, practicing in private office, Karaj, IR Iran., Azizi F; Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.
Jazyk:	angličtina
Zdroj:	International journal of endocrinology and metabolism [Int J Endocrinol Metab] 2017 Jul 31; Vol. 15 (3), pp. e12384. Date of Electronic Publication: 2017 Jul 31 (Print Publication: 2017).
DOI:	10.5812/ijem.12384
Abstrakt:	Purpose and Methods: Hereditary vitamin D resistant rickets (HVDRR) is a rare disease that presents with signs and symptoms of rickets, alopecia, and growth retardation during the early years of life. The disease is caused by mutations in the vitamin D receptor (VDR) gene, which leads to unresponsiveness of the mutant receptor to 1-25(OH) 2 D3. The disease is transmitted as an autosomal recessive disorder and is found with equal frequency in males and females. The disease is rarely encountered and only about 100 cases are reported so far. The current paper reported the clinical and laboratory characteristics of 2 Iranian siblings with this disorder. Results and Conclusion: They presented with rickets, growth retardation, muscle weakness, hypocalcemia and alopecia totalis since early childhood, and were followed up for 27 years. Sequencing of the DNA extracted from the peripheral white blood cells showed a missense G to A mutation in exon number 4 (g.30994 G > A) that led to the methionine substitution for the naturally occurring valine at position 26 in the DNA binding domain (DBD) of the VDR. Competing Interests: Conflict of Interest:The authors declared no conflict of interest.
Databáze:	MEDLINE
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