| Peer-Reviewed

Vitamin D-Dependent Rickets Type 2: Rare Case Report

Received: 20 June 2022     Accepted: 15 July 2022     Published: 4 August 2022
Views:       Downloads:
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.

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), 2022. Published by Science Publishing Group

Keywords

Rickets, VDDR2A, Autosomal Recessive, Vitamin D, Calcium, 1,25(OH)2 Vit D3

References
[1] Thakur M. Familial Vitamin D-dependent rickets Type 2A: A report of two cases with alopecia and oral manifestations. J Oral Maxillofac Pathol. 2019 Feb; 23 (Suppl 1): 130-133. doi: 10.4103/jomfp.JOMFP_309_18. PMID: 30967742; PMCID: PMC6421925.
[2] Inamdar P., Bellad R., Herekar V. Vitamin D-dependent rickets type 2: alopecia responding to 1,25 hydroxy vitamin D. Journal of the Scientific Society. 2016; 43 (3): 155–157. doi: 10.4103/0974-5009.190548.
[3] Azemi M, Berisha M, Ismaili-Jaha V, et al. Vitamin D - Dependent Rickets, Type II Case Report. Mater Sociomed. 2014; 26 (1): 68-70. doi: 10.5455/msm.2014.26.68-70.
[4] Vupperla D, Lunge SB, Elaprolu P. Vitamin D-Dependent Rickets Type II with Alopecia: A Rare Case Report. Indian J Dermatol. 2018 Mar-Apr; 63 (2): 176-179. doi: 10.4103/ijd.IJD_434_17. PMID: 29692463; PMCID: PMC5903051.
[5] Soni SS, Adikey GK, Raman AS. Vitamin D dependent rickets type II: late onset of disease and response to high doses of vitamin D. Saudi J Kidney Dis Transpl. 2008 Sep; 19 (5): 796-8. PMID: 18711299.
[6] Shafeghati Y, Momenin N, Esfahani T, Reyniers E, Wuyts W. Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene. Arch Iran Med. 2008 May; 11 (3): 330-4. PMID: 18426327.
[7] Badabagni, Raghava, Bodduluri, Rambabu, AND Raju, P. V.. "A rare case of Vitamin D dependent rickets type II: a case report" International Journal of Contemporary Pediatrics [Online], Volume 6 Number 5 (23 August 2019).
[8] Cockerill FJ, Hawa NS, Yousaf N, Hewison M, O'Riordan JL, Farrow SM. Mutations in the vitamin D receptor gene in three kindreds associated with hereditary vitamin D resistant rickets. J Clin Endocrinol Metab. 1997 Sep; 82 (9): 3156-60. doi: 10.1210/jcem.82.9.4243. PMID: 9284761.
[9] Takeda E, Kuroda Y, Saijo T, Naito E, Yokota I, Myao M. 1-alpha-hydroxyvitamin D3 treatment of three patients with 1,25-dihydroxyvitaminD3 receptor defect rickets and alopecia. Pediatrics. 1987; 80: 97-101.
[10] Malloy PJ, Hochberg Z, Tiosano D, Pike JW, Hughes MR, Feldman D. The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families. J Clin Invest 1990; 86: 2071-9.
[11] Nina SMA, Malloy PJ, Pisit P, Dreimane D, Gefner M, Feldman D. Hereditary vitamin D Resistant Rickets. Bone. 2009; 45 (4): 743-746.
[12] Balsan S, Garabedian M, Liberman UA, Eil C, Bourdeau A, Guillozo H, et al. Rickets and alopecia with resistance to 1,25-dihydroxyvitamin D; two different clinical courses with two different cellular defects. J Clin Endocrinol Metab. 1983; 57: 803-811.
[13] Feldman D, Chen T, Cone C, Hirst M, Shani S, Benderli A, Hochberg Z. Vitamin D resistant rickets with alopecia: cultured skin fibriblasts exhibit defective cytoplasmic receptors and unresponsiveness to 1,25 (OH)2 D3. J ClinEndocrinol Met. 1992; 55: 1020-1022.
[14] Stojanov Lj, Vulović D. Sindrom vitamin D rezistentnog rahitisa. Rahitis danas, Niš 1985: 151-159.
[15] Thandrayen K and Pettifor JM. The roles of vitamin D and dietary calcium in nutritional rickets. Bone Rep. 2018; 8: 81-89.
[16] Zambrano M, Nikitakis NG, Sanchez-Quevedo MC, Sauk JJ, Sedano H, Rivera H, et al. Oral and dental manifestations of Vitamin D-dependent rickets type I: Report of a pediatric case. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2003; 95: 705-9.
[17] Souza AP, Kobayashi TY, Lourenço Neto N, Silva SM, Machado MA, Oliveira TM, et al. Dental manifestations of patient with vitamin D-resistant rickets. J Appl Oral Sci 2013; 21: 601-6.
[18] Kaptein S, Risselada AJ, Boerma EC, Egbers PH, Nieboer P. Lifethreatening complications of vitamin D intoxication due to overthe-counter supplements. Clin Toxicol (Phila). 2010; 48: 460-462.
Cite This Article
  • 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

    Copy | Download

    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

    Copy | Download

    AMA 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

    Copy | 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}
    }
    

    Copy | Download

  • 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  - 

    Copy | Download

Author Information
  • Department of Pediatrics, Al Zahraa Hospital University Medical Center, Beirut, Lebanon

  • Department of Pediatrics, Al Zahraa Hospital University Medical Center, Beirut, Lebanon

  • Department of Pediatrics, Al Zahraa Hospital University Medical Center, Beirut, Lebanon

  • Department of Pediatrics, Al Zahraa Hospital University Medical Center, Beirut, Lebanon

  • Department of Pediatrics, Al Zahraa Hospital University Medical Center, Beirut, Lebanon

  • Department of Pediatrics, Al Zahraa Hospital University Medical Center, Beirut, Lebanon

  • Sections