A Case of Hereditary Vitamin D-Resistant Rickets (HVDRR) without Alopecia: A Novel Mutation

2011 ◽  
pp. P2-116-P2-116
Author(s):  
Karen Eileen Huang ◽  
Peter J Malloy ◽  
Debra Jeandron ◽  
David Feldman ◽  
Pisit Pitukcheewanont
Keyword(s):  
Vitamin D ◽  
Novel Mutation ◽  
Vitamin D Resistant Rickets ◽  
Resistant Rickets

Identification of a novel mutation in hereditary vitamin D resistant rickets causing exon skipping

1996 ◽  
Vol 45 (1) ◽  
pp. 85-92 ◽  
Author(s):  
N. S. Hawa ◽  
F. J. Cockerill ◽  
S. Vadher ◽  
M. Hewison ◽  
A. R. Rut ◽  
...  
Keyword(s):  
Vitamin D ◽  
Novel Mutation ◽  
Exon Skipping ◽  
Vitamin D Resistant Rickets ◽  
Resistant Rickets

A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets

2007 ◽  
Vol 0 (0) ◽  
pp. 071027220355004-??? ◽  
Author(s):  
K. Arita ◽  
A. Nanda ◽  
V. Wessagowit ◽  
M. Akiyama ◽  
Q.A. Alsaleh ◽  
...  
Keyword(s):  
Vitamin D ◽  
Novel Mutation ◽  
Vdr Gene ◽  
Vitamin D Resistant Rickets ◽  
Resistant Rickets

Identification of a novel mutation in hereditary vitamin D resistant rickets causing exon skipping

1996 ◽  
Vol 45 (1) ◽  
pp. 85-92 ◽  
Author(s):  
N. S. Hawa ◽  
F. J. Cockerill ◽  
S. Vadher ◽  
M. Hewison ◽  
A. R. Rut ◽  
...  
Keyword(s):  
Vitamin D ◽  
Novel Mutation ◽  
Exon Skipping ◽  
Vitamin D Resistant Rickets ◽  
Resistant Rickets

Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation

2019 ◽  
Vol 32 (6) ◽  
pp. 647-651
Author(s):  
Elvan Bayramoğlu ◽  
Şenay Şavaş Erdeve ◽  
Yufei Shi ◽  
Melikşah Keskin ◽  
Semra Çetinkaya ◽  
...  
Keyword(s):  
Vitamin D ◽  
Novel Mutation ◽  
Gene Mutations ◽  
Autosomal Recessive Disorder ◽  
High Dose ◽  
Dose Oral ◽  
Vitamin D Resistant Rickets ◽  
Intravenous Calcium ◽  
Resistant Rickets

Abstract Background Vitamin D resistant rickets (HVDRR), is a rare autosomal recessive disorder caused by vitamin D receptor (VDR) gene mutations. There is no standard treatment in HVDRR. Case report The patient was a 3-year-old girl presenting with short stature, genu varum deformity, waddling gait and alopecia. She had hypocalcemia, hypophosphatemia, hyperparathyroidism and normal 1.25-(OH)2D levels. The patient was initially treated with calcitriol and high-dose oral calcium (Ca) for 22 months. The patient was treated with continuous high dose intravenous (i.v.) Ca therapy for 4 months, following initial lack of response to oral Ca and calsitriol. At the end of the 4 months, rickets was dramatically improved and did not recur for 3 years after i.v. Ca therapy. DNA sequence analyses of the VDR gene showed a homozygous novel mutation. Conclusions We identified a novel VDR gene mutation, and we concluded that i.v. Ca therapy from the central catheter is a safe treatment in HVDRR.

A study on hypophosphatemic vitamin D resistant rickets in a family

1984 ◽  
Vol 20 (3) ◽  
pp. 582
Author(s):  
D Y Chung ◽  
J N Byon ◽  
C J Suh ◽  
J J Won
Keyword(s):  
Vitamin D ◽  
Vitamin D Resistant Rickets ◽  
Resistant Rickets
Sign in / Sign up

Export Citation Format

Share Document