In:
Hormone Research in Paediatrics, S. Karger AG, Vol. 87, No. 1 ( 2017), p. 23-29
Abstract:
〈 b 〉 〈 i 〉 Background: 〈 /i 〉 〈 /b 〉 Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by the early onset of rickets and is caused by mutations in the vitamin D receptor ( 〈 i 〉 VDR 〈 /i 〉 ) gene. Some HVDRR patients also have alopecia. 〈 b 〉 〈 i 〉 Patients and Methods: 〈 /i 〉 〈 /b 〉 We retrospectively studied the clinical features, laboratory findings, genetic defects, as well as responses to treatment in a series of children with HVDRR. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 Eight patients from 7 families met the inclusion criteria. Alopecia was noted in 7 patients. Two different homozygous mutations in the 〈 i 〉 VDR 〈 /i 〉 gene were identified in 6 patients: the p.K45E mutation located in the DNA-binding domain (5 patients with alopecia) and a novel p.T415R mutation located in the ligand-binding domain. A p.E143del 〈 i 〉 CYP24A1 〈 /i 〉 mutation, in the gene encoding the 25-hydroxyvitamin D3-24-hydroxylase, was identified in 2 brothers carrying the 〈 i 〉 VDR 〈 /i 〉 gene mutation p.K45E. Six patients were treated with intermittent intravenous calcium treatment via the peripheral route with a clear improvement in 5 cases. 〈 b 〉 〈 i 〉 Conclusion: 〈 /i 〉 〈 /b 〉 To the best of our knowledge, this is the first major series reporting on HVDRR in Tunisia. The same mutation (p.K45E) was found in 5 apparently unrelated affected individuals. We have also extended the mutation spectrum by studying 1 novel 〈 i 〉 VDR 〈 /i 〉 mutation.
Type of Medium:
Online Resource
ISSN:
1663-2818
,
1663-2826
Language:
English
Publisher:
S. Karger AG
Publication Date:
2017
detail.hit.zdb_id:
2540224-9
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