Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
| Autor: | Imene Chabchoub, Aurélie Toussaint, S. Kmiha, Hajer Aloulou, Fatma Damak, Thouraya Kamoun, Ines Maaloul, Caroline Silve, Fatma Kamoun, Salma Ben Ameur, Lamia Sfaihi, Mongia Hachicha |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine Vitamin medicine.medical_specialty Tunisia genetic structures Endocrinology Diabetes and Metabolism Mutation Missense 030209 endocrinology & metabolism Rickets Calcitriol receptor 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Endocrinology Internal medicine Humans Medicine Missense mutation Early onset business.industry Infant Amino acid substitution medicine.disease eye diseases 030104 developmental biology Amino Acid Substitution chemistry Child Preschool Pediatrics Perinatology and Child Health Receptors Calcitriol Female Familial Hypophosphatemic Rickets sense organs Resistant rickets business human activities |
| Zdroj: | Hormone Research in Paediatrics. 87:23-29 |
| ISSN: | 1663-2826 1663-2818 |
| DOI: | 10.1159/000452886 |
| Popis: | Background: 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 (VDR) gene. Some HVDRR patients also have alopecia. Patients and Methods: We retrospectively studied the clinical features, laboratory findings, genetic defects, as well as responses to treatment in a series of children with HVDRR. Results: Eight patients from 7 families met the inclusion criteria. Alopecia was noted in 7 patients. Two different homozygous mutations in the VDR 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 CYP24A1 mutation, in the gene encoding the 25-hydroxyvitamin D3-24-hydroxylase, was identified in 2 brothers carrying the VDR gene mutation p.K45E. Six patients were treated with intermittent intravenous calcium treatment via the peripheral route with a clear improvement in 5 cases. Conclusion: 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 VDR mutation. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|