Long-term dental intervention and laboratory examination in a patient with Vitamin D-dependent rickets type I

Liu, An-Qi; Zhang, Li-Shu; Guo, Hao; Wu, Meiling; Li, Tianyi; Xuan, Kun; Wei, Kewen

doi:10.1097/md.0000000000022508

Cited by 5 publications

(4 citation statements)

References 19 publications

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“…Although VDDR1A remains a rare disease worldwide, its frequency is higher in the SLSJ region, probably due to a founder effect (18,19). The importance of early diagnosis and treatment for VDDR1A have been well documented in the past and the present study (9,(22)(23)(24). These studies highlighted the importance of offering an early diagnosis to individuals affected with VDDR1A to prevent related harmful health consequences (13,25).…”

Section: Discussionsupporting

confidence: 55%

“…Many studies have also described frequent misdiagnosis of VDDR1A, mainly in cases of nutritional rickets, renal tubular acidosis, and hypophosphatemic rickets. In these studies, the mean age at onset was 12 (9-18) months whereas the age at diagnosis was 20 (13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31) months. These data were obtained by retrieving results from 36 studies and analyzing a total of 156 patients.…”

Section: Discussionmentioning

confidence: 99%

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Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population

et al. 2022

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BackgroundVitamin D-dependant rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by pathogenic variants in the CYP27B1 gene. This gene is essential for vitamin D activation. Although VDDR1A is a rare condition worldwide, its prevalence is high in the Saguenay-Lac-Saint-Jean (SLSJ) region due to a founder effect. Daily intake of calcitriol before the onset of clinical manifestations can prevent them in affected children.MethodsA genetic screening test was developed and validated for the CYP27B1 gene c.262del pathogenic variant. Newborn screening was implemented in the SLSJ region for this variant, and the feasibility and acceptability were assessed. Sixteen medical records of children affected with VDDR1A were reviewed to document the consequences of the disease at diagnosis.ResultsA total of 2000 newborns were tested for VDDR1A. Most families (96.5%) accepted the genetic test. We found a carrier rate of 1/29 for the c.262delG variant in our cohort, which is suggestive of a founder effect. We identified one child affected with VDDR1A and treatment was initiated before the onset of clinical manifestations. On average, children with VDDR1A were diagnosed at 13.8 ± 5 months of age, they had a significant failure to thrive at diagnosis, among other harmful health consequences.ConclusionOur study showed that in our population, the newborn genetic screening program is safe and feasible, it has high acceptability, and it is efficient to identify affected children. VDDR1A health consequences can be prevented by early initiation of treatment. Therefore, screening programs should be available for populations where it is deemed as beneficial from a public health perspective.

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Section: Discussionsupporting

confidence: 55%

Section: Discussionmentioning

confidence: 99%

Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population

et al. 2022

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“…Moreover, a Chinese boy with VDDR1A manifested enlarged pulp chambers with thin dentin in all teeth. Furthermore, all erupted teeth exhibited dark yellow coloring with varying degrees of enamel defects (Liu, Zhang, et al, 2020).…”

Section: Syndromic Dentin Defects and Their Pathogenic Genesmentioning

confidence: 99%

Hereditary dentin defects with systemic diseases

Zhu

Wang

et al. 2023

Oral Diseases

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ObjectiveThis review aimed to summarize recent progress on syndromic dentin defects, promoting a better understanding of systemic diseases with dentin malformations, the molecules involved, and related mechanisms.Subjects and MethodsReferences on genetic diseases with dentin malformations were obtained from various sources, including PubMed, OMIM, NCBI, and other websites. The clinical phenotypes and genetic backgrounds of these diseases were then summarized, analyzed, and compared.ResultsOver 10 systemic diseases, including osteogenesis imperfecta, hypophosphatemic rickets, vitamin D‐dependent rickets, familial tumoral calcinosis, Ehlers‐Danlos syndrome, Schimke immuno‐osseous dysplasia, hypophosphatasia, Elsahy‐Waters syndrome, Singleton‐Merten syndrome, odontochondrodysplasia, and microcephalic osteodysplastic primordial dwarfism type II were examined. Most of these are bone disorders, and their pathogenic genes may regulate both dentin and bone development, involving extracellular matrix, cell differentiation, and metabolism of calcium, phosphorus, and vitamin D. The phenotypes of these syndromic dentin defects various with the involved genes, part of them are similar to dentinogenesis imperfecta or dentin dysplasia, while others only present one or two types of dentin abnormalities such as discoloration, irregular enlarged or obliterated pulp and canal, or root malformation.ConclusionSome specific dentin defects associated with systemic diseases may serve as important phenotypes for dentists to diagnose. Furthermore, mechanistic studies on syndromic dentin defects may provide valuable insights into isolated dentin defects and general dentin development or mineralization.

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“…The major clinical entities are the first three. Particularly, enamel has a weakened structure and a decreased resistance being thin, soft, discolored, vulnerable to fractures and there are pulp stones [9][10][11] .…”

Section: Rickets Related With Vitamin Dmentioning

confidence: 99%

A dental approach to hereditary and congenial metabolic bone diseases

Rallatou¹,

Sakka²,

Zafeiris³

2023

JRPMS

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Bone growth requires a balance of minerals such as calcium, phosphorus, and factors of bone biomineralization. The difference between jaws' bones and the rest of the bones is the existence of teeth. Although the development of teeth has no similarities with bones, the biomineralization of both is happening at the same time. Consequently, the disturbances in the metabolism of minerals and peptides which participate in osteogenesis, have an impact on teeth, jaws, periodontal tissues, and oral mucosa. The hereditary and congenial metabolic bone diseases are being analysed and classified based on their genetic profile and oral manifestations. Regarding the categories, there are metabolic bone diseases caused by genetic mutations, like hereditary rickets, and others caused by chromosomal abnormalities, such as Down syndrome. In addition, many disorders are provoked by enzymatic dysfunction, disturbances of creation of polypeptide chain, while others have an unknown explanation. Many oral manifestations are related with problems in the dentition, oral mucosa, periodontal tissues, and jaws. Especially some syndromes present with cleft lip and palate. To conclude, there is a big variety of dental symptoms of these disorders, while the most frequent are the delayed eruption of teeth, oligodontia, a dysplastic enamel and dentine.

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Long-term dental intervention and laboratory examination in a patient with Vitamin D-dependent rickets type I

Cited by 5 publications

References 19 publications

Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population

Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population

Hereditary dentin defects with systemic diseases

A dental approach to hereditary and congenial metabolic bone diseases

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