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Vitamin D-Dependent Rickets Type 3: A Case Report and Systematic Review.

Author: BordalloAna Paula, CoelhoMaria Caroline Alves, Collett-SolbergPaulo Ferrez, CoutinhoMarcelo, LevineMichael A, MantoanelliLucas, de AlmeidaCamila Medeiros

Case ReportsIn the medical field, a report that describes in detail a unique case, an unusual medical condition, or the effect of a treatment. Provides new insights and possibilities for treatment through individual patient cases.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Research Support, N.I.H., ExtramuralResearch funding provided by the NIH to external research institutions and researchers.
Systematic ReviewA review that systematically collects, evaluates, and integrates relevant research to answer a specific research question.

Overview

This report describes a third case of Vitamin D-Dependent Rickets type 3 (VDDR3) caused by a recurrent missense mutation in the CYP3A4 gene, highlighting the importance of early recognition and prompt precision therapy for this condition.
Paper Details　
Original Abstract of the Article :
Although vitamin D deficiency resulting from insufficient sunlight exposure or inadequate dietary vitamin D intake is the most common cause of rickets, mutations in genes involved in vitamin D metabolism can cause genetic forms of rickets termed Vitamin D-Dependent Rickets (VDDR). In 2018, Roizen et...See full text at original site
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引用元：
https://pubmed.ncbi.nlm.nih.gov/36656330

データ提供：米国国立医学図書館（NLM）

Vitamin D-Dependent Rickets Type 3: Unveiling the Hidden Oasis

Rickets, a condition characterized by weakened bones, is like a hidden oasis in the desert of human health. While most cases are caused by vitamin D deficiency, some are rooted in genetic mutations. This study, like a skilled archaeologist, unearths a new type of genetic rickets termed Vitamin D-Dependent Rickets Type 3 (VDDR3).

The researchers meticulously investigated a case of VDDR3 in a 2-year-old boy, identifying a recurrent mutation in the CYP3A4 gene. This mutation, like a hidden spring in the desert, leads to the accelerated inactivation of vitamin D metabolites, disrupting the body's ability to utilize this essential nutrient.

A New Oasis in the Desert of Rickets

The discovery of VDDR3, like a hidden oasis in the desert of rickets research, provides valuable insight into the genetic basis of this condition. This finding emphasizes the importance of early recognition and prompt precision therapy for optimal treatment.

Navigating the Desert of Rickets: The Importance of Early Intervention

This study highlights the need for awareness of VDDR3 and the crucial role of early diagnosis and treatment to prevent severe bone deformities and ensure optimal growth. Understanding the genetic causes of rickets is like finding a new oasis of knowledge in the desert of bone health.

Dr.Camel's Conclusion

The discovery of VDDR3 is a significant step forward in understanding the genetic basis of rickets. This research emphasizes the importance of early intervention to ensure optimal growth and development. The quest to understand and treat rickets is like a journey through a challenging desert landscape, and every new discovery leads us closer to finding a cure.

Date :
  1. Date Completed 2023-09-11
  2. Date Revised 2023-09-11
Further Info :

Pubmed ID

36656330

DOI: Digital Object Identifier

NIHMS1918794

Related Literature

Article Analysis
・Effective treatment of rickets
SNS
PICO Info
in preparation
Languages

English

Positive IndicatorAn AI analysis index that serves as a benchmark for how positive the results of the study are. Note that it is a benchmark and requires careful interpretation and consideration of different perspectives.

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