Enamel Renal Syndrome
Conditions
Keywords
FAM20A, enamel renal syndrome
Brief summary
In the research, the investigators will characterize the renal and vascular damage and look for factors favoring the formation of calcification induced by enamel renal syndrome. Patients will undergo four investigations, as part of their routine care, to assess their renal impairment. Each investigation will require a day in the Physiology Department of the George Pompidou European Hospital. The 4 tests are designed to * precisely measure your renal filtration capacity, * evaluate your body's calcium and phosphate regulation, * evaluate your capacity to regulate the elimination of water from the body * assess your body's ability to regulate acid intake. As part of the research, an additional 20 ml blood sample and a urine sample will be taken during the other samples taken as part of routine care. Healthy volunteers will undergo blood and urine tests, dental X-rays and renal ultrasound. For healthy volunteers, the aim of the dental X-ray and renal ultrasound is to check that there are no dental or renal abnormalities, so as to rule out not only email-rein syndrome, but also any dental or renal abnormalities that might resemble it. The aim of blood and urine sampling is to measure various molecules that promote calcification or inhibit the calcification process, so as to be able to compare results obtained in healthy subjects with those obtained in patients with enamel renal syndrome. Each healthy subject will be selected to be matched by age and sex to each of the patients included in the study.
Interventions
DIAGNOSTIC_TESTurinary proteome
Volume 2 ml, with protease inhibitor made one time for each arm of the protocol
DIAGNOSTIC_TESTurinary metabolome
Sample collected once in the protocol for each arm.
DIAGNOSTIC_TESTEvaluation of plasma mineralization factors
Complementary plasma analysis during another blood sample collection for both arms
DIAGNOSTIC_TESTRenal ultrasound
Verification of normal renal morphology, absence of nephrocalcinosis
RADIATIONdental panoramic x-ray
Verification of normal dentition
BIOLOGICALBlood and urine minimal biology
Fasting blood: creatinine, blood ions (Na + K + Cl + CO2 + Proteins), calcium, phosphate, CBC (Complete Blood Count), liver function tests, lipid profile); Morning fasting urine: creatinine, calcium, phosphate, protein, urinalysis (ECBU)
Sponsors
Fondation Université de Paris
Université de Liège
Institut Necker Enfants Malades
Assistance Publique - Hôpitaux de Paris
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
OTHER
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 90 Years
Healthy volunteers
Yes
Inclusion criteria
* Informed patient who does not object to participating in the study * Age ≥ 18 years * Be affiliated to a social security scheme or be a beneficiary of such a scheme * Able to understand the interest and constraints of the study * Suffering from enamel-renal syndrome with a proven pathogenic variant of FAM20A
Exclusion criteria
* Pregnancy * Breast-feeding * Simultaneous participation in a therapeutic trial * Patient under guardianship or curatorship * Patient under court protection or family guardianship * Patient under AME * Enamel-renal syndrome with pathogenic variation in a gene other than FAM20A
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Glomerular filtration rate | Up to 18 months | Glomerular filtration rate measurement by measure of renal 99mTc-DTPA clearance |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Comparison of urine proteome between patients and healthy volunteers | Up to 18 months | Identification of candidate mechanisms to approach the pathophysiology of ectopic calcifications through the study of the urinary proteome |
| Maximal urine osmolality | Up to 18 months | Evaluation of water regulation by water deprivation test, urine collection after deprivation. |
| Level of dp-uc MGP | Up to 18 months | Identification of candidate mechanisms for approaching the pathophysiology of ectopic calcifications by assaying plasma inhibitors of biomineralization. |
| Level of Fetuin A | Up to 18 months | Identification of candidate mechanisms for approaching the pathophysiology of ectopic calcifications by assaying plasma inhibitors of biomineralization. |
| Ammonium chloride urine flow | Up to 18 months | Urine collection to evaluate the acid regulation after oral ammonium chloride load test. |
| Propensity score | Up to 18 months | Identification of candidate mechanisms for approaching the pathophysiology of ectopic calcifications by assaying plasma inhibitors of biomineralization. |
| calciuria rate | Up to 18 months | Urine collection in order to evaluate calcium regulation. |
| Ratio TmPi/DFG | Up to 18 months | Blood and urine collection in order to evaluate phosphate regulation |
| Calcium score | Up to 18 months | Thoracic, abdominal and pelvic scan perform in order to evaluate vascular calcium content. |
| Level of Osteoprotegerin | Up to 18 months | Identification of candidate mechanisms for approaching the pathophysiology of ectopic calcifications by assaying plasma inhibitors of biomineralization. |
Countries
France
Contacts
Primary ContactCléo Bourgeois
Backup ContactElise Bouderlique, MD
Outcome results
None listed