Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets

Authors

  • Rajan Kumar Department of Paediatrics, AIIMS Deoghar, Jharkhand, India
  • Akanksha Raj Department of Obstetrics and Gynaecology, ANMMCH, Gaya, Bihar, India
  • Manoj Kumar Department of Paediatrics, AIIMS Deoghar, Jharkhand, India
  • Deepak Kumar Department of PMR, AIIMS Deoghar, Jharkhand, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20230096

Keywords:

VDDR2, Alopecia, Rickets

Abstract

Vitamin D dependent rickets (VDDR) type 2 is a very rare hereditary disease which has an autosomal recessive mode of inheritance. Patients with VDDR type 2 have a mutation in the gene encoding for vitamin D receptor on chromosome 12q12-q14, thus averting normal physiological action of 1,25 vitamin D. It's presents with the developmental delay in motor domain with features of rickets usually in the first year of life. Alopecia totalis has a frequent association with the disease. We are reporting a case of a 5-year-old boy who has a history of difficulty walking since 2 year of life, with a gradually progressive motor weakness course. Patients have a history of alopecia since 2 months of age, which progressed to alopecia totalis. On investigation, serum calcium was 7.2 mg/dl with a very high alkaline phosphate level of 1065 IU/ML with a normal vitamin D level was reported. The initial treatment started with IV calcium followed by 1000mg of oral calcium, along with a high dose of calcitriol. The patient was under periodic follow-up showing improvement in biochemical parameters. We reviewed literature of seven patient out of which 5 patients had alopecia and found 2 patients had enamel hypoplasia and all had features of rickets.

References

Levine MA. Diagnosis and Management of Vitamin D Dependent Rickets. Front Pediatr. 2020;8:315.

Labuda M, Fujiwara TM, Ross MV, Morgan K, Garcia-Heras J, Ledbetter DH et al. Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q13-14. J Bone Miner Res. 1992;7(12):1447-53.

Inamdar PR, Bellad RM, Herekar VH. Vitamin D-dependent rickets type 2: Alopecia responding to 1,25 hydroxy Vitamin D. J Scientific Soc. 2016;43(3):155.

Siddiqee MH, Bhattacharjee B, Siddiqi UR, MeshbahurRahman M. High prevalence of vitamin D deficiency among the South Asian adults: a systematic review and meta-analysis. BMC Public Heal. 2021;21:1823.

Thakur M. Familial Vitamin D-dependent rickets Type 2A: A report of two cases with alopecia and oral manifestations. J Oral Maxillofac Pathol. 2019;23(1):130-3.

Gupta P, Dabas A, Seth A, Bhatia VL, Khadgawat R, Kumar P et al. Indian Academy of Pediatrics Revised (2021) Guidelines on Prevention and Treatment of Vitamin D Deficiency and Rickets. Indian Pediatr. 2022;59(2):142-58.

Marx SJ. Resistance to Vitamin D. In: Kumar R, editor. Vitamin D: Basic and Clinical Aspects. Boston, MA: Springer US. 1984;721-45.

Acar S, Demir K, Shi Y. Genetic Causes of Rickets. J Clin Res Pediatr Endocrinol. 2017;9(2):88-105.

Christakos S, Dhawan P, Verstuyf A, Verlinden L, Carmeliet G. Vitamin D: Metabolism, Molecular Mechanism of Action, and Pleiotropic Effects. Physiological Rev. 2016;96(1):365-408.

Azemi M, Berisha M, Ismaili-Jaha V, Kolgeci S, Hoxha R, Grajçevci-Uka V et al. Vitamin D - Dependent Rickets, Type II Case Report. Mater Sociomed. 2014;26(1):68-70.

Mishra S, Yadav TP, Nangia S, Gupta VK, Sidhu KK. Vitamin-D dependent rickets type II. Indian Pediatr. 1996;33(4):334-6.

Sunuwar N, Gautam S, Twayana A, Adhikari Yadav S, Anjum F, Kandel K. Hereditary Vitamin-D Dependent Rickets Type II: A Case Report. JNMA J Nepal Med Assoc. 2021;59(238):597-600.

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;19(5):796-8.

Zambrano M, Nikitakis NG, Sanchez-Quevedo MC, Sauk JJ, Sedano H, Rivera H. 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(6):705-9.

Downloads

Published

2023-01-24

Issue

Section

Case Reports