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Fibromuscular dysplasia (FMD) is localized structural defects in the arterial wall, whose innate or acquired character is still unknown. This segmental non atheromatous injury, leads to stenosis of the arteries of small and medium caliber. Renal arteries are the most commonly affected with 60-75% of total fibrodysplasia. Three histological subtypes have been described: intimal, medial and peri-medial. They are not mutually exclusive and can be observed in the same patient.
This is a rare blood disease, occurring in children and young adults. In this young population with long life expectancy, these aneurysmal lesion are associated with 10% risk of rupture. To date, no data have shown in the literature that FMD is link to genetic causes, or if there is specific histopathologic lesions for non-atherosclerotic renal artery aneurysms.
To answer these questions, Cardiovascular Surgery Unit of the University Hospital of Saint-Etienne, French national reference center for renal artery surgery, in association with the Reference Center for Rare Vascular Disease in Paris, designed the first study for pathological and genetic characteristics of dysplastic renal artery aneurysms in young patients.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| patients with renal aneurysm | Patient with one or more renal artery aneurysm (RAA) operated and with tissue; adjacent part and aneurysm; cryopreserved. Blood sample performed at day 1. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| tissue of adjacent part and aneurysm of renal aneurysm | Procedure | the samples are collected during surgery of renal artery aneurysms. Th tissue is cryopreserved in liquid nitrogen before analysis |
| Measure | Description | Time Frame |
|---|---|---|
| anatomopathological characteristics of renal aneurysms | Anatomopathological criteria is a composite outcome : Presence of a media thickness, the media disappearance zones, loss of smooth muscle cells (SMC) in the media with replacement by fibrosis, disorganization of SMC, aneurysms, dissections, discontinuity of the internal elastic lamina, and intimal thickening due to myointimal hyperplasia, abnormalities of proteins of the extracellular matrix. | day 1 |
| Measure | Description | Time Frame |
|---|---|---|
| genetic markers in blood samples | identify specific genetic markers (mutation, variant) to characterize genes involved in fibromuscular dysplasia | day 1 |
| genetic markers in aneurysm tissue | identify specific genetic markers (mutation, variant) to characterize genes involved in fibromuscular dysplasia |
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Inclusion Criteria:
Exclusion Criteria:
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Patients with one or more Renal artery aneurysm (RAA), not eligible for endovascular treatment, have been operated at the Hospital of Saint-Etienne, with tissue (adjacent part and aneurysm) cryopreserved in liquid nitrogen in renal lab and then sent in genetic lab in EHGP.
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| Name | Affiliation | Role |
|---|---|---|
| Xavier Barral, PhD | Centre Hospitalier Universitaire de Saint Etienne | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CH Henri Mondor | Aurillac | France | ||||
| CH Louis Pasteur |
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blood samples and adjacent part and aneurysm of renal aneurysms
| blood sample | Other |
|
| day 1 |
| Bagnols-sur-Cèze |
| France |
| CHU Saint-Jacques | Besançon | France |
| Groupe Hospitalier Pellegrin | Bordeaux | France |
| Clinique Saint-Germain | Brive-la-Gaillarde | France |
| Centre Hospitalier A. Gayraud | Carcassonne | France |
| CH W. Morey | Chalon-sur-Saône | France |
| Hôpital Gabriel Montpied | Clermont-Ferrand | France |
| CH Emile Roux | Le Puy-en-Velay | France |
| Hôpital Jeanne de Flandre | Lille | France |
| Hôpital de la mère et de l'enfant | Limoges | France |
| Hôpital Robert Schuman | Metz | France |
| Hôpital Lapeyronie | Montpellier | France |
| CHU Nantes | Nantes | France |
| CH Niort | Niort | France |
| Hôpital Européen Georges Pompidou | Paris | France |
| CHRU Tours | Tours | France |
| ID | Term |
|---|---|
| D005352 | Fibromuscular Dysplasia |
| D012078 | Renal Artery Obstruction |
| ID | Term |
|---|---|
| D001157 | Arterial Occlusive Diseases |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D007674 | Kidney Diseases |
| D014570 | Urologic Diseases |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
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| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |
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