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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Roth, Christian / Toppari, Jorma

Editorial Board: Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / Hiort, Olaf / LaFranchi, Stephen H. / Lanes M. D., Roberto / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Werther, George / Zadik, Zvi

12 Issues per year


IMPACT FACTOR 2016: 1.233

CiteScore 2016: 1.09

SCImago Journal Rank (SJR) 2016: 0.527
Source Normalized Impact per Paper (SNIP) 2016: 0.602

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2191-0251
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Volume 24, Issue 9-10

Issues

Vitamin D dependent rickets, diagnostic and therapeutic difficulties: two case reports

Valentina Donghi
  • Department of Pediatrics, Vita-Salute San Raffaele University, San Raffaele Scientific Institute, via Olgettina 60, 20132 Milan, Italy
  • Other articles by this author:
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/ Marianna Di Frenna
  • Department of Pediatrics, Vita-Salute San Raffaele University, San Raffaele Scientific Institute, via Olgettina 60, 20132 Milan, Italy
  • Other articles by this author:
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/ Alessandra di Lascio
  • Department of Pediatrics, Vita-Salute San Raffaele University, San Raffaele Scientific Institute, via Olgettina 60, 20132 Milan, Italy
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/ Giuseppe Chiumello
  • Department of Pediatrics, Vita-Salute San Raffaele University, San Raffaele Scientific Institute, via Olgettina 60, 20132 Milan, Italy
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/ Giovanna Weber
  • Department of Pediatrics, Vita-Salute San Raffaele University, San Raffaele Scientific Institute, via Olgettina 60, 20132 Milan, Italy
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Published Online: 2011-08-11 | DOI: https://doi.org/10.1515/JPEM.2011.214

Abstract

There are two types of vitamin D dependent rickets (VDDR) that cause rickets in children. Vitamin D dependent rickets type 1 (VDDR-I) is caused by an inborn error of vitamin D metabolism, which interferes with renal conversion of calcidiol (25OHD) to calcitriol (1,25(OH)2D) by the enzyme 1α-hydroxylase. Vitamin D dependent rickets type 2 (VDDR-II) is caused by a defect in the vitamin D receptor (VDR). We report cases of two African children affected by VDDR-I and VDDR-II, respectively. Establishing an early diagnosis of these genetic forms of rickets is challenging, especially in developing countries where nutritional rickets (NR) is the most common variety of the disease. A prompt diagnosis is necessary to initiate adequate treatment, resolve biochemical features and prevent complications, such as severe deformities that may require surgical intervention.

Keywords: rickets; vitamin D dependent rickets; vitamin D

About the article

Corresponding author: Giovanna Weber, Department of Pediatrics, Vita-Salute San Raffaele University, San Raffaele Scientific Institute, via Olgettina 60, 20132 Milan, Italy Phone: +39 022 6432624, Fax: +39 022 6437346


Received: 2011-03-07

Accepted: 2011-06-08

Published Online: 2011-08-11

Published in Print: 2011-10-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 24, Issue 9-10, Pages 801–805, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/JPEM.2011.214.

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