Case report
Pseudovitamin D deficiency rickets
a report from the
Indian subcontinent
Abdul Hamid Zargara, Ambrish Mithalb, Arshad Iqbal Wania, Bashir Ahmad Lawaya, Shariq Rashid Masoodia, Mir Iftikhar Bashira, Mohammad Ashraf Ganiea
a Department of
Endocrinology, Sheri-Kashmir Institute of Medical Sciences, Srinagar,
Kashmir, India, b Department of Endocrinology, Sanjay Gandhi
Postgraduate Institute of Medical Sciences, Lucknow, India
Correspondence to: Professor Abdul Hamid Zargar, Post Box No 1098, GPO, Srinagar 190001, Kashmir, India (e-mail: abdulhamidz{at}vsnl.com)
Submitted 6 June 1999;
Accepted 22 November 1999
Pseudovitamin D deficiency rickets (also called vitamin D
dependent rickets type I) is one of the types of inherited rickets and
is caused by a deficit in renal 25-hydroxyvitamin D 1
-hydroxylase. This form of rickets has not been reported from the Indian
subcontinent. Three patients with this disorder are presented. These
patients were all females aged 3-20 years and presented with growth
failure and skeletal deformities. All had florid clinical and
radiological rickets. The biochemical abnormalities seen included
hypocalcaemia, hypophosphataemia, and hyperphosphatasia. All patients
had grossly raised 25-hydroxyvitamin D concentrations and markedly
low to undetectable concentrations of 1,25-dihydroxyvitamin D. A
disturbing feature of this study was the late referral of the patients.
Keywords: 1
-hydroxylase;
calcitriol;
inherited
rickets;
vitamin D dependent rickets
© 2000 by The Fellowship of Postgraduate Medicine
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
- Full Text
- Full Text (PDF)
- Submit a response
- Alert me when this article is cited
- Alert me when eLetters are posted
- Alert me if a correction is posted
Services
- Email this link to a friend
- Similar articles in this journal
- Similar articles in PubMed
- Add article to my folders
- Download to citation manager
- Request Permissions
Citing Articles
Google Scholar
PubMed
Topic Collections
Bookmark with
Register for free content
The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.
Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.
