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[Determination of metabolites of vitamin D in a case of Debré-De Toni-Fanconi syndrome secondary to cystinosis].

Author: ColaciccoB, ColussiG, De ChiaraA, GasparroC, GerosaR, OttolenghiA

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.
English AbstractA summary of a research paper/publication written in English for a wider audience.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.

Overview

A patient with Debrè-De Toni-Fanconi syndrome secondary to cystinosis was given vitamin D metabolites, resulting in reduced plasma 1,25(OH)2D levels. Administration of 1 alpha dihydroxycholecalciferol improved metabolic bone disease without side effects.
Paper Details　
Original Abstract of the Article :
A patient affected with Debrè-De Toni-Fanconi syndrome secondary to cystinosis, has been given doses of vitamin D metabolites. This resulted in a reduced plasma 1,25(OH)2D level. This data should confirm, as it has already been noted in literature. There is a defect in renal 1 alpha hydroxylation of...See full text at original site
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引用元：
https://pubmed.ncbi.nlm.nih.gov/3491362

データ提供：米国国立医学図書館（NLM）

Navigating the Shifting Sands of Debré-De Toni-Fanconi Syndrome: A Case Study of Vitamin D Metabolism

The world of metabolic disorders is complex and often challenging to diagnose and manage. This case study explores the metabolic pathways involved in Debré-De Toni-Fanconi syndrome (DTFS), a rare genetic disorder characterized by kidney dysfunction. The researchers investigated a patient with DTFS secondary to cystinosis, a rare genetic storage disease, focusing on the role of vitamin D metabolites in this condition. The study revealed a defect in renal 1 alpha hydroxylation of 25OHD, highlighting the importance of understanding these specific metabolic pathways in managing DTFS.

Navigating the Shifting Sands of Debré-De Toni-Fanconi Syndrome: A Case Study of Vitamin D Metabolism

This case study highlights the importance of considering the specific metabolic pathways involved in DTFS. The authors' findings provide valuable insights into the role of vitamin D metabolism in this condition, emphasizing the need for personalized treatment strategies tailored to address these specific metabolic abnormalities.

Navigating the Shifting Sands of Debré-De Toni-Fanconi Syndrome: A Case Study of Vitamin D Metabolism

If you're diagnosed with DTFS, it's essential to work closely with a healthcare professional to develop a comprehensive management plan. Understanding the specific metabolic abnormalities associated with this condition is crucial for ensuring effective and personalized treatment.

Dr. Camel's Conclusion

DTFS represents a complex challenge in the desert of metabolic disorders. This case study sheds light on the specific metabolic pathways involved, highlighting the importance of understanding these complexities for optimal patient care.

Date :
  1. Date Completed 1987-01-09
  2. Date Revised 2013-11-21
Further Info :

Pubmed ID

3491362

DOI: Digital Object Identifier

3491362

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