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
Journal of Pediatric Endocrinology and Metabolism, cilt.32, sa.6, ss.647-651, 2019 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 32 Sayı: 6
- Basım Tarihi: 2019
- Doi Numarası: 10.1515/jpem-2018-0399
- Dergi Adı: Journal of Pediatric Endocrinology and Metabolism
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.647-651
- Anahtar Kelimeler: hereditary vitamin D resistant rickets, i.v. calcium treatment, vitamin D receptor mutation
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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. 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. 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.