ECEESPE2025 Poster Presentations Bone and Mineral Metabolism (112 abstracts)
Biochemical response kinetics in vitamin d resistant rickets (VDDR) type 1 and 2: 13-year retrospective analysis from a tertiary care centre
Archana K 1 , Preeti Dabadghao 1 , Vijayalakshmi Bhatia 1 & Archana Kumari 1
1Sanjay Gandhi Postgraduate Institute of Medical Sciences, Endocrinology, Lucknow, India
JOINT168
Background: Vitamin D-resistant rickets (VDDR) type 1 and 2 are rare genetic forms of rickets. A few genetically proven cases have been reported from India. The pragmatic treatment responses assessed over time in literature are scarce.
Method: Retrospectively, we identified a cohort of fifteen cases of VDDR, including 6 patients of VDDR 1A, 2 patients of VDDR 1B, 7 patients of VDDR 2. The biochemical parameters, treatment and outcomes were analyzed. Data are presented as median with inter-quartile range (IQR), and mixed effect analysis for statistical analysis was used.
Result: In VDDR1A, the median age of presentation and delay in diagnosis was 12 (IQR-8-13. 5) and 26 months, whereas for VDDR2 it was 12 (IQR-6-24) and 46 months (6-58) respectively. 50% of VDDR1A patients had severe calcipenic symptoms and serum calcium improved over time from baseline- 7. 75mg/dl to 9. 3mg/dl at 1 year, and 9. 9mg/dl at 5 years, requiring a calcium dose(mg/kg/d) of 62. 5(44-128. 75), which reduced to 26. 5(18. 5-56. 25). Likewise, calcitriol dose (ng/kg/d) reduced from 40(26. 25-63. 75) to 24(12. 5-30. 75). In VDDR2, alopecia was present in 6 out of 7 patients, however only 28. 6% had severe calcipenic symptoms. Serum calcium improved over time from baseline- 7. 4mg/dl to 8. 7mg/dl at 1 year to 9. 2mg/dl at 5 years. As expected, these patients required higher doses of calcium and calcitriol. They required a calcium dose (mg/kg/d) of 138(70-160), which reduced to 100(42-200). Similarly, calcitriol dose (ng/kg/d) reduced from 75(50-100) to 62(27-100). Time to biochemical improvement was 5. 5 and 12months for VDDR1A and VDDR2 respectively. Additionally, two siblings with VDDR1B presented in their infancy, with complete biochemical response (alkaline phosphatase, serum parathyroid hormone, serum calcium) in 3 months with adequate calcium and vitamin D supplementation.
| ALP | PTH | Hypocalcemia | Treatment | |||
| VDDR1A | (duration in months) | (duration in months) | Calcium dose(mg/kg/d) | Calcitriol dose(ng/kg/d) | ||
| Our study | n = 6 | 5. 5 | 5. 5 | 4 | Baseline&unixF0E0; 62. 5 1 year&unixF0E0;55 5 years&unixF0E0;20 | Baseline&unixF0E0;40 1 year&unixF0E0;33. 5 5 years&unixF0E0;15 |
| Manjunath H D et al (2021) | n = 7 | 12-15 | 12-15 | 3-6 | ||
| Fatma Dursun et al (2019) | n = 11 | 4-12 | 4-12 | NA | ||
| T Edouard et al (2011) | n = 7 | 3 | 3 | 3 | Initiated Calictriol at 1ug/d | |
| VDDR2 | ||||||
| Our study | n = 7 | 12 | 12 | 9 | Baseline&unixF0E0; 138 1 year&unixF0E0;110 5 years&unixF0E0;105 | Baseline&unixF0E0;75 1 year&unixF0E0;70 5 years&unixF0E0;22. 5 |
| Z Hochberg et al (1992) | n = 10 | 12 | 12 | 1 week-IV calcium | ||
| Aida Al-Aqeel et al (1993) | n = 2 | 1. 5-2 | 1. 5-2 | 3 days-IV calcium |
Conclusion: Timely diagnosis of VDDR is lacking, but good symptomatic and biochemical response is seen once diagnosed and appropriately treated.
Volume 110
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Endocrine Abstracts
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