Vitamin D dependent rickets type I

Kim, Chan Jong

doi:10.3345/kjp.2011.54.2.51

Cited by 21 publications

(13 citation statements)

References 24 publications

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“…In other forms of rickets, such as vitamin‐D‐resistant rickets (VDRR), increasing the 25(OH)D status may not counteract the associated muscle weakness and delayed growth. Type 1 VDRR is a disorder characterized by low or undetectable concentrations of 1α,25‐dihydroxyvitamin D [1,25(OH) 2 D, an active metabolite of vitamin D] due to a mutation in the renal enzyme 25(OH)D‐1‐α‐hydroxylase (CYP27B1) 61 . This mutation prevents conversion of 25(OH)D to 1,25(OH) 2 D, which can only be corrected with 1,25(OH) 2 D supplementation.…”

Section: Consequences Of Vitamin D Deficiency On Muscle Functionmentioning

confidence: 99%

Vitamin D: an overview of its role in skeletal muscle physiology in children and adolescents

2012

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Many children may have insufficient serum concentrations of vitamin D, which could prevent optimal muscle development and function. Vitamin D deficiency in animal models results in negative effects on muscle fiber structure and calcium/phosphorus handling, suggesting an integral role of vitamin D in skeletal muscle function. While there is a dearth of data in humans, the available evidence demonstrates a positive association between vitamin D status and muscle function. This review focuses on the important role of vitamin D in muscle function in children and adolescents who live in North American regions where exposure to ultraviolet B radiation is limited and who are thus at increased risk for vitamin D insufficiency. The effects of vitamin D on muscle cell proliferation and differentiation, muscle fiber structure, and calcium and phosphorus handling are discussed. Moreover, the roles of vitamin D and the vitamin D receptor and their genomic and nongenomic actions in muscle function are explored in depth. Future research should aim to establish a vitamin D status consistent with optimal musculoskeletal development and function in young children.

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Section: Consequences Of Vitamin D Deficiency On Muscle Functionmentioning

confidence: 99%

Vitamin D: an overview of its role in skeletal muscle physiology in children and adolescents

2012

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“…Genetic defects in one or the other of the above enzymes leads to rare forms of rickets. Most cases stem from the deficient function of the 1α-hydroxylase, also described as vitamin-D-dependent rickets type 1A (VDDR-1A), which is encoded by the CYP27B1 gene at chromosome 12 [2][3][4] . So far, 64 different mutations in CYP27B1 have been reported in more than 100 patients [5,6] .…”

Section: Introductionmentioning

confidence: 99%

“…So far, 64 different mutations in CYP27B1 have been reported in more than 100 patients [5,6] . Children with VDDR-1A present in early infancy with muscle weakness, joint deformity, bowed legs, growth failure, seizures or fractures, and metabolic abnormalities of the calcium homeostasis, with the vast majority of the patients having as a hallmark low levels of 1,25-(OH) 2 vitamin D in the presence of normal 25-hydroxyvitamin D (25-OH vitamin D) levels [6] . Herein, we report a 20-month-old boy with VDDR-1A with distinct clinical and radiological findings consistent with rickets but with normal levels of 1,25-(OH) 2 vitamin D. CYP27B1 gene analysis identified two novel mutations in our patient.…”

Section: Introductionmentioning

confidence: 99%

A Case of Vitamin-D-Dependent Rickets Type 1A with Normal 1,25-Dihydroxyvitamin D Caused by Two Novel Mutations of the <b><i>CYP27B1</i></b> Gene

Giannakopoulos

Efthymiadou

Chrysis³

2016

Horm Res Paediatr

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Background: Vitamin-D-dependent rickets 1A (VDDR-1A) is caused by mutations of the renal CYP27B1 gene and is a rare form of rickets. Herein, we report a 20-month-old toddler who presented with inability to walk and failure to thrive. The clinical, biochemical and radiological findings were consistent with a diagnosis of rickets, specifically of the genetic type due to increased 25-OH vitamin D stores. Methods and Results: Our patient was a compound heterozygote with 2 novel mutations: c.242G>A(p.Gly81Glu) and c.1144C>G (p.Pro382Ala) in the CYP27B1 gene. Analysis of both mutations with in silico models predicted a deleterious effect on 25-OH vitamin D 1α-hydroxylase function. Interestingly, the levels of 1,25-(OH)₂ vitamin D were within normal limits. Our patient was initiated on 1α-hydroxyvitamin D (alfacalcidol) and supplemental calcium. Monitoring of bone metabolism showed a normalization of all bone metabolism serum indices after 3 months of therapy and, thereafter, only alfacalcidol was given at a maintenance dose. The clinical follow-up showed a dramatic improvement in musculoskeletal activity, and the patient regained acceleration in height and weight appropriate for his age. Conclusion: This rare case report of VDDR-1A with normal levels of 1,25-(OH)₂ vitamin D enhances our awareness for this type of rickets in clinical practice.

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“…Clinically, VDDR1 is characterized by hypotonia, muscle weakness, growth failure, and radiographic findings of rickets. Typical laboratory findings are hypocalcaemia, elevated serum levels of alkaline phosphatase (ALP) and parathyroid hormone (PTH) with low or undetectable levels of 1,25(OH) 2 D despite normal or increased concentrations of 25OHD [3]. …”

Section: Introductionmentioning

confidence: 99%

Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I

Tahir

Demirbilek²,

Özbek³

et al. 2016

Horm Res Paediatr

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Background and Aims: Vitamin D-dependent rickets type I (VDDR1) is an autosomal recessive disorder caused by mutations in the 25-hydroxyvitamin D 1-alpha-hydroxylase gene (CYP27B1). Mutations in CYP27B1 disrupt or lead to a total loss of the 1-α-hydroxylase activity and require treatment with physiological doses of calcitriol. Patients and Methods: A genetic analysis of the CYP27B1 gene was conducted in 22 Turkish patients with VDDR1 from 13 families. Presenting characteristics, biochemical features, treatment, and results from the genetic analysis are described. Results: A splice donor site mutation c.195 + 2T>G was found in 10 patients. The novel missense p.192K>E (c.574A>G) mutation was detected in 5 patients, and a novel missense p.197G>D (c.590G>A) mutation was found in 4 patients. A previously reported 7-bp duplication 1319-1325dupCCCACCC (Phe443Profs*24) in exon 8 was detected in 1 patient, and 1 patient was a compound heterozygote for the novel p.192K>E and the previously described 1319-1325dupCCCACCC mutations. A novel single base pair deletion, c.171_171delG, leading to a frameshift, was found in 1 patient. Conclusions: We identified 3 novel and 2 previously described mutations in the CYP27B1 gene. A marked phenotypical diversity was observed between families that carried identical mutations, suggesting phenotypical heterogeneity.

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Vitamin D dependent rickets type I

Cited by 21 publications

References 24 publications

Vitamin D: an overview of its role in skeletal muscle physiology in children and adolescents

Vitamin D: an overview of its role in skeletal muscle physiology in children and adolescents

A Case of Vitamin-D-Dependent Rickets Type 1A with Normal 1,25-Dihydroxyvitamin D Caused by Two Novel Mutations of the <b><i>CYP27B1</i></b> Gene

Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I

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