BACKGROUND: Vitamin D-dependent rickets type I (VDDR I) (OMIM 264700) is a rare hereditary condition caused by a mutation in CYP27B1. Vitamin D is emerging as an important risk factor for susceptibility to multiple sclerosis (MS), but there have been no studies on the possible association between hereditary rickets and this disease. OBJECTIVE: To investigate the association between VDDR I and MS. DESIGN: Case studies. SETTING: Haukeland University Hospital, Bergen, Norway. PATIENTS: Three patients in 2 families with a co-occurrence of VDDR I and MS. RESULTS: All 3 patients had VDDR I verified by genetic testing and fulfilled the Poser criteria for MS. Two of the patients have undergone magnetic resonance imaging, which confirmed the diagnosis of long-lasting MS. CONCLUSIONS: Vitamin D-dependent rickets type I is a very uncommon genetic subtype of rickets. We have identified 3 patients with this disease who later developed MS. We propose that VDDR I and possibly other hereditary rickets mutations that influence vitamin D metabolism could be risk factors for this disease.
BACKGROUND:Vitamin D-dependent rickets type I (VDDR I) (OMIM 264700) is a rare hereditary condition caused by a mutation in CYP27B1. Vitamin D is emerging as an important risk factor for susceptibility to multiple sclerosis (MS), but there have been no studies on the possible association between hereditary rickets and this disease. OBJECTIVE: To investigate the association between VDDR I and MS. DESIGN: Case studies. SETTING: Haukeland University Hospital, Bergen, Norway. PATIENTS: Three patients in 2 families with a co-occurrence of VDDR I and MS. RESULTS: All 3 patients had VDDR I verified by genetic testing and fulfilled the Poser criteria for MS. Two of the patients have undergone magnetic resonance imaging, which confirmed the diagnosis of long-lasting MS. CONCLUSIONS:Vitamin D-dependent rickets type I is a very uncommon genetic subtype of rickets. We have identified 3 patients with this disease who later developed MS. We propose that VDDR I and possibly other hereditary rickets mutations that influence vitamin D metabolism could be risk factors for this disease.
Authors: Maria Ban; Stacy Caillier; Inger-Lise Mero; Kjell-Morten Myhr; Elisabeth G Celius; Jan Aarseth; Øivind Torkildsen; Hanne F Harbo; Jorge Oksenberg; Stephen L Hauser; Stephen Sawcer; Alastair Compston Journal: Ann Neurol Date: 2013-02-26 Impact factor: 10.422
Authors: Colleen Elizabeth Hayes; Shane L Hubler; Jerott R Moore; Lauren E Barta; Corinne E Praska; Faye E Nashold Journal: Front Immunol Date: 2015-03-18 Impact factor: 7.561