Type II vitamin D-dependent rickets with diabetic ketoacidosis
-
Sumantra Sarkar
,
Rakesh Mondal
Abstract
The high prevalence of vitamin D deficiency in relation to diabetes mellitus is well reported in the literature. However, type I diabetes mellitus (T1DM) in association with resistant rickets is extremely rare and reported in only one previous case. The authors describe here a case of type II vitamin D-dependent rickets (VDDR type II) in a 10-year-old Indian girl who presented with diabetic ketoacidosis (DKA). DKA as a presenting manifestation of T1DM in a patient with VDDR type II has never been reported before in worldwide literature.
Conflict of interest statement
Funding: None.
Competing interest: None stated.
Contributors: RM, IB, TKS: involved with the management of the case. RM, SS, IB: drafted the manuscript and searched the literature. SS and RM: did the critical review and manuscript modifications. All the authors read and approved the final manuscript.
References
1. Mathieu C, Badenhoop K. Vitamin D and type 1 diabetes mellitus: state of the art. Trends Endocrinol Metab 2005;16:261–6.10.1016/j.tem.2005.06.004Suche in Google Scholar
2. Takiishi T, Gysemans C, Bouillon R, Mathieu C. Vitamin D and diabetes. Endocrinol Metab Clin North Am 2010;39:419–46.10.1016/j.ecl.2010.02.013Suche in Google Scholar
3. Holick MF. Diabetes and the vitamin D connection. Curr Diab Rep 2008;8:393–8.10.1007/s11892-008-0068-0Suche in Google Scholar
4. Hyppönen E, Läärä E, Reunanen A, Järvelin MR, Virtanen SM. Intake of vitamin D and risk of type 1 diabetes: a birth-cohort study. Lancet 2001;358:1500–3.10.1016/S0140-6736(01)06580-1Suche in Google Scholar
5. Nguyen M, d’Alesio A, Pascussi JM, Kumar R, Griffin MD, et al. Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3. Bone Miner Res 2006;21:886–94.10.1359/jbmr.060307Suche in Google Scholar PubMed
6. Zipitis CS, Akobeng AK. Vitamin D supplementation in early childhood and risk of type 1 diabetes: a systematic review and meta-analysis. ADC 2008;93:512–7.Suche in Google Scholar
7. Badenhoop K. Solar power to prevent type 1 diabetes? Pediatr Diabetes 2008;9:79–80.10.1111/j.1399-5448.2008.00387.xSuche in Google Scholar PubMed
8. Boucher BJ. Vitamin D insufficiency and diabetes risks. Curr Drug Targets 2011;12:61–87.10.2174/138945011793591653Suche in Google Scholar PubMed
9. Svoren BM, Volkening LK, Wood JR, Laffel LM. Significant vitamin D deficiency in youth with type 1 diabetes mellitus. J Pediatr 2009;154:132–4.10.1016/j.jpeds.2008.07.015Suche in Google Scholar PubMed PubMed Central
10. Mohr SB, Garland CF, Gorham ED, Garland FC. The association between ultraviolet B irradiance, vitamin D status and incidence rates of type 1 diabetes, in 51 regions worldwide. Diabetologia 2008;1:1391–8.10.1007/s00125-008-1061-5Suche in Google Scholar PubMed
©2013 by Walter de Gruyter Berlin Boston
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