A rare case of Vitamin D dependent rickets type II: a case report

Authors

  • Raghava Badabagni Department of Pediatrics, Konaseema Institute of Medical Science and RF, Amalapuram, Andhra Pradesh, India
  • Rambabu Bodduluri Department of Pediatrics, Konaseema Institute of Medical Science and RF, Amalapuram, Andhra Pradesh, India
  • P. V. Prudhvi Raju Department of Pediatrics, Konaseema Institute of Medical Science and RF, Amalapuram, Andhra Pradesh, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20193753

Keywords:

Autosomal recessive, End-organ resistance, Refractory rickets, Vitamin D, 1, 25(OH)2 Vitamin D3

Abstract

Vitamin D-dependent type II rickets (VDDRII) is a rare autosomal recessive disorder caused by mutation in the vitamin D receptor gene, leading to end-organ resistance to 1,25(OH)2 vitamin D3. It presents with refractory rickets and growth retardation presenting in the first year of life. It is frequently associated with alopecia totalis. Due to target organresistance, its response to vitamin D is poor. The recommended treatment is giving supra physiological dose of 1,25(OH)2 vitamin D3 and a high dose of oral or intravenous calcium. The response of alopecia to treatment is generally poor. We present a 3 ½ year-old male child with VDDR II whose alopecia and rickets partially responded to 1,25(OH)2 vitamin D3.

References

Takeda E, Yamamoto H, Taketani Y, Miyamoto K. Vitamin D-dependent rickets type I and type II. Acta Paediatr Jpn.1997;39(4):508-13.

Kumar V, Kumar M, Yadav M. Alopecia in vitamin D-dependent rickets type II responding to 1α-hydroxycholecalciferol. Ann Trop Paediatr. 2010;30(4):329-33.

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.

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;11:330-4.

Sadamoto Y, Arase S, Kato S, Nakanishi H, Fujie K, Takeda E, et al. The effect of 1, 25-dihydroxyvitamin D3 on cultured human hair follicle cells from a patient with vitamin D-dependent rickets type II with alopecia. Nihon Hifuka Gakkai Zasshi. 1990;100(2):211-4.

Takeda E, Yokota I, Kawakami I, Hashimoto T, Kuroda Y, Arase S. Two siblings with vitamin-D-dependent rickets type II: No recurrence of rickets for 14 years after cessation of therapy. Eur J Pediatr. 1989;149(1):54-7.

Al-Aqeel A, Ozand P, Sobki S, Sewairi W, Marx S. The combined use of intravenous and oral calcium for the treatment of vitamin D dependent rickets type II (VDDRII). Clin Endocrinol (Oxf) 1993;39(2):229-37.

Downloads

Published

2019-08-23