التفاصيل البيبلوغرافية
| العنوان: |
Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature |
| المؤلفون: |
Dhull, Rachita Singh, Jain, Reena, Deepthi, Bobbity, Cheong, Hae II, Saha, Abhijeet, Mehndiratta, Mohit, Basu, Srikanta |
| المصدر: |
Brazilian Journal of Nephrology. December 2020 42(4) |
| بيانات النشر: |
Sociedade Brasileira de Nefrologia, 2020. |
| سنة النشر: |
2020 |
| مصطلحات موضوعية: |
Familial Hypophosphatemic Rickets, Children, 25-Hydroxyvitamin D3 1-alpha-Hydroxylase, Mutagenesis, Insertional |
| الوصف: |
Two siblings presented with clinical and biochemical features of rickets, initially suspected as hypophosphatemic rickets. There was no improvement initially, hence the siblings were reinvestigated and later diagnosed as having vitamin D-dependent rickets (VDDR) type 1 due to a rare mutation in the CYP27B1 gene encoding the 1α-hydroxylase enzyme. Both siblings improved with calcitriol supplementation. The initial presentation of VDDR is often confusing and algorithmic evaluation helps in diagnosis. We also present a brief review of the literature, including genetics. |
| نوع الوثيقة: |
article |
| وصف الملف: |
text/html |
| اللغة: |
English |
| تدمد: |
0101-2800 |
| DOI: |
10.1590/2175-8239-jbn-2020-0001 |
| URL الوصول: |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002020000400494 |
| Rights: |
info:eu-repo/semantics/openAccess |
| رقم الانضمام: |
edssci.S0101.28002020000400494 |
| قاعدة البيانات: |
SciELO |
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