Vitamin D dependent rickets type 2 A (VDDR2A) is a rare autosomal recessive disorder due to end-organ resistance to 1, 25 (OH)2 vitamin D3. Clinically it can emerged by growth retardation. Rickets in the first year of life is frequently associated with alopecia, hypocalcaemia, secondary hyperparathyroidism. We report a rare case of VDDR2A in a 2 years old boy presenting with failure to thrive, developmental delay, bilateral femoral fractures and prolonged QT interval on EKG. The patient was lethargic, hypoactive, with dysmorphic features, triangular facies, defective dentition, short dysmorphic bowing lower limbs. Laboratory workup showed hypocalcemia, hypophosphatemia with high PTH level and high alkaline phosphatase level. Insuficient vitamin D2-D3 level was found. The diagnosis was confirmed on whole exome sequencing. A wide range of clinical features exists in VDDR type П. The treatment of the patient with high doses of intravenous and oral calcium, phosphorus and vitamin D gave a slow and a minimal response. In order to achieve a disease control, treatment should be started early in the course of the disease. High doses of intravenous and oral calcium infusions are needed for a good response. However, long term administration of calcium results in complications such as cardiac arrhythmia, hypercalceuria, nephrocalcinosis.
| Published in | American Journal of Pediatrics (Volume 8, Issue 3) |
| DOI | 10.11648/j.ajp.20220803.14 |
| Page(s) | 173-176 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2024. Published by Science Publishing Group |
Rickets, VDDR2A, Autosomal Recessive, Vitamin D, Calcium, 1,25(OH)2 Vit D3
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APA Style
Hanady Al Haddad, Raymonda Chahrour, Zahra Moukhader, Hassan Fakhredine, Sanaa Saadeddine, et al. (2022). Vitamin D-Dependent Rickets Type 2: Rare Case Report. American Journal of Pediatrics, 8(3), 173-176. https://doi.org/10.11648/j.ajp.20220803.14
ACS Style
Hanady Al Haddad; Raymonda Chahrour; Zahra Moukhader; Hassan Fakhredine; Sanaa Saadeddine, et al. Vitamin D-Dependent Rickets Type 2: Rare Case Report. Am. J. Pediatr. 2022, 8(3), 173-176. doi: 10.11648/j.ajp.20220803.14
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Download@article{10.11648/j.ajp.20220803.14,
author = {Hanady Al Haddad and Raymonda Chahrour and Zahra Moukhader and Hassan Fakhredine and Sanaa Saadeddine and Saada Alameh},
title = {Vitamin D-Dependent Rickets Type 2: Rare Case Report},
journal = {American Journal of Pediatrics},
volume = {8},
number = {3},
pages = {173-176},
doi = {10.11648/j.ajp.20220803.14},
url = {https://doi.org/10.11648/j.ajp.20220803.14},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20220803.14},
abstract = {Vitamin D dependent rickets type 2 A (VDDR2A) is a rare autosomal recessive disorder due to end-organ resistance to 1, 25 (OH)2 vitamin D3. Clinically it can emerged by growth retardation. Rickets in the first year of life is frequently associated with alopecia, hypocalcaemia, secondary hyperparathyroidism. We report a rare case of VDDR2A in a 2 years old boy presenting with failure to thrive, developmental delay, bilateral femoral fractures and prolonged QT interval on EKG. The patient was lethargic, hypoactive, with dysmorphic features, triangular facies, defective dentition, short dysmorphic bowing lower limbs. Laboratory workup showed hypocalcemia, hypophosphatemia with high PTH level and high alkaline phosphatase level. Insuficient vitamin D2-D3 level was found. The diagnosis was confirmed on whole exome sequencing. A wide range of clinical features exists in VDDR type П. The treatment of the patient with high doses of intravenous and oral calcium, phosphorus and vitamin D gave a slow and a minimal response. In order to achieve a disease control, treatment should be started early in the course of the disease. High doses of intravenous and oral calcium infusions are needed for a good response. However, long term administration of calcium results in complications such as cardiac arrhythmia, hypercalceuria, nephrocalcinosis.},
year = {2022}
}
TY - JOUR T1 - Vitamin D-Dependent Rickets Type 2: Rare Case Report AU - Hanady Al Haddad AU - Raymonda Chahrour AU - Zahra Moukhader AU - Hassan Fakhredine AU - Sanaa Saadeddine AU - Saada Alameh Y1 - 2022/08/04 PY - 2022 N1 - https://doi.org/10.11648/j.ajp.20220803.14 DO - 10.11648/j.ajp.20220803.14 T2 - American Journal of Pediatrics JF - American Journal of Pediatrics JO - American Journal of Pediatrics SP - 173 EP - 176 PB - Science Publishing Group SN - 2472-0909 UR - https://doi.org/10.11648/j.ajp.20220803.14 AB - Vitamin D dependent rickets type 2 A (VDDR2A) is a rare autosomal recessive disorder due to end-organ resistance to 1, 25 (OH)2 vitamin D3. Clinically it can emerged by growth retardation. Rickets in the first year of life is frequently associated with alopecia, hypocalcaemia, secondary hyperparathyroidism. We report a rare case of VDDR2A in a 2 years old boy presenting with failure to thrive, developmental delay, bilateral femoral fractures and prolonged QT interval on EKG. The patient was lethargic, hypoactive, with dysmorphic features, triangular facies, defective dentition, short dysmorphic bowing lower limbs. Laboratory workup showed hypocalcemia, hypophosphatemia with high PTH level and high alkaline phosphatase level. Insuficient vitamin D2-D3 level was found. The diagnosis was confirmed on whole exome sequencing. A wide range of clinical features exists in VDDR type П. The treatment of the patient with high doses of intravenous and oral calcium, phosphorus and vitamin D gave a slow and a minimal response. In order to achieve a disease control, treatment should be started early in the course of the disease. High doses of intravenous and oral calcium infusions are needed for a good response. However, long term administration of calcium results in complications such as cardiac arrhythmia, hypercalceuria, nephrocalcinosis. VL - 8 IS - 3 ER -
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