Active clinical trials for "Dent Disease"

The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research. The purpose of this research is to: Develop Clinical Guidelines for specific rare kidney diseases. These are written recommendations on how to diagnose and treat a medical condition. Audit treatments and outcomes. An audit makes checks to see if what should be done is being done and asks if it could be done better. Further the development of future treatments. Participants will be invited to participate on clinical trials and other studies. The registry has the capacity to feedback relevant information to patients and in conjunction with Patient Knows Best (Home - Patients Know Best), allows patients to provide information themselves, including their own reported quality of life and outcome measures.

The purpose of this study is to determine the natural history of the hereditary forms of nephrolithiasis and chronic kidney disease (CKD), primary hyperoxaluria (PH), cystinuria, Dent disease and adenine phosphoribosyltransferase deficiency (APRTd) and acquired enteric hyperoxaluria (EH). The investigator will measure blood and urinary markers of inflammation and determine relationship to the disease course. Cross-comparisons among the disorders will allow us to better evaluate mechanisms of renal dysfunction in these disorders.

The purpose of this study is to collect medical information from a large number of patients in many areas of the world with primary hyperoxaluria (PH), Dent disease, Cystinuria and APRT deficiency. This information will create a registry that will help us to compare similarities and differences in patients and their symptoms. The more patients we are able to enter into the registry, the more we will be able to understand the Primary Hyperoxalurias,Dent disease, cystinuria and APRT and learn better ways of caring for patients with these diseases.

This study is being done to obtain samples from patients with primary hyperoxaluria, cystinuria, adenine phosphoribosyl transferase (APRT) deficiency, and Dent disease, and from their family members, for use in future research.

Intrarenal calcifications (nephrocalcinosis) is present in Dent's disease and likely contribute to progression toward renal failure. In order to prevent this complication it is usually proposed to treat affected patients during childhood with high doses of thiazides.

Patients with Dent disease have suppressed levels of FGF 23 which contributes to hypercalciuria, kidney stones, nephrocalcinosis and renal failure. Supplementation with phosphorus may reduce hypercalciuria.

The design is a single blinded, dual comparative study of ultrasound versus micro-CT/LASCA in one study group. Up to a total of 140 subjects registered will be recruited. Subjects who are treatment planned for extraction of a hopeless tooth and socket augmentation with bone graft and are planned for a dental implant surgery. The socket will be evaluated before the extraction and multi-time points during healing until an implant is placed with various evaluation tools, including ultrasound.

This study will help the investigator determine whether certain genetic mutations, more than others, are a cause of more severe disease in Dent Disease.

In recent decades, the field of public health has become increasingly interested in endocrine disruptors, and their effects on humans. Indeed, various scientific studies have highlighted an evolution in the frequency of pathologies due to these substances, affecting in particular the reproductive organs. Many concerns are expressed about the impact of these substances, present in the environment or in consumer products, on the hormonal system. Effects have been observed in animals in experimental studies, but the question of extrapolating these results to humans arises, especially for exposures at low doses. In orthodontics, the composite is the material of choice mainly for bonding fasteners, then bonding a compression wire. These composite materials contain many monomers. The polemics launched on Bisphenol A and the questions of our patients on the nature and toxicity of dental products oblige us to reflect on their harmfulness after their placement in the oral cavity. Many questions arise today about dental composites and their participation in the release of endocrine disruptors. Indeed, Bisphenol A is used in the manufacturing process of the monomers of orthodontic composites, as precursors of Bis-GMA and Bis-DMA. The objective of this study is to search for the presence of BPA, TEGDMA, BisGMA, BisDMA and UDMA monomers, and to carry out the samples and their analysis at different clinical times (at T0, after the removal of orthodontic attachments, after the placement of the compression, one hour later, one week later, one month later and 6 months later) and the comparison of this quantification to that without orthodontic restraint. Studies have been performed in vitro, but very little in vivo. In addition, these studies are only carried out on release at the time of installation, but few are interested in the continuation of the phenomenon over time and the deterioration of the composite. Although the short-term toxicity of BPA is low, its dangerousness lies in its potential endocrine disrupting effect and which can induce long-term chronic toxicity. Compounds such as TEGDMA, BisGMA, BisDMA and UDMA differ greatly in their volatility due to their different chemical structures as well as in their stability in saliva; Many methods have been developed to study each monomer individually or to study them simultaneously using different analytical techniques to determine their presence and to quantify them after their release from dental products. The analysis of the samples is carried out by liquid chromatography (HPLC).

Assessment of Health-related Quality of Life in Rare Kidney Stone Formers in the Rare Kidney Stone Consortium