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NCBI: db=pubmed; Term=vasculitis AND ((English[lang] OR French[lang]) AND adult[MeSH] AND "last 90 days"[PDat])
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ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

mer, 04/10/2017 - 19:38
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ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

Ann Rheum Dis. 2017 Oct;76(10):1648-1656

Authors: Caorsi R, Penco F, Grossi A, Insalaco A, Omenetti A, Alessio M, Conti G, Marchetti F, Picco P, Tommasini A, Martino S, Malattia C, Gallizi R, Podda RA, Salis A, Falcini F, Schena F, Garbarino F, Morreale A, Pardeo M, Ventrici C, Passarelli C, Zhou Q, Severino M, Gandolfo C, Damonte G, Martini A, Ravelli A, Aksentijevich I, Ceccherini I, Gattorno M

Abstract
OBJECTIVES: To analyse the prevalence of CECR1 mutations in patients diagnosed with early onset livedo reticularis and/or haemorrhagic/ischaemic strokes in the context of inflammation or polyarteritis nodosa (PAN). Forty-eight patients from 43 families were included in the study.
METHODS: Direct sequencing of CECR1 was performed by Sanger analysis. Adenosine deaminase 2 (ADA2) enzymatic activity was analysed in monocyte isolated from patients and healthy controls incubated with adenosine and with or without an ADA1 inhibitor.
RESULTS: Biallelic homozygous or compound heterozygous CECR1 mutations were detected in 15/48 patients. A heterozygous disease-associated mutation (p.G47V) was observed in two affected brothers. The mean age of onset of the genetically positive patients was 24 months (6 months to 7 years). Ten patients displayed one or more cerebral strokes during their disease course. Low immunoglobulin levels were detected in six patients. Thalidomide and anti-TNF (tumour necrosis factor) blockers were the most effective drugs. Patients without CECR1 mutations had a later age at disease onset, a lower prevalence of neurological and skin manifestations; one of these patients displayed all the clinical features of adenosine deaminase 2deficiency (DADA2) and a defective enzymatic activity suggesting the presence of a missed mutation or a synthesis defect.
CONCLUSIONS: DADA2 accounts for paediatric patients diagnosed with PAN-like disease and strokes and might explain an unrecognised condition in patients followed by adult rheumatologist. Timely diagnosis and treatment with anti-TNF agents are crucial for the prevention of severe complications of the disease. Functional assay to measure ADA2 activity should complement genetic testing in patients with non-confirming genotypes.

PMID: 28522451 [PubMed - indexed for MEDLINE]

Randomized Trial of C5a Receptor Inhibitor Avacopan in ANCA-Associated Vasculitis.

mer, 04/10/2017 - 19:38
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Randomized Trial of C5a Receptor Inhibitor Avacopan in ANCA-Associated Vasculitis.

J Am Soc Nephrol. 2017 Sep;28(9):2756-2767

Authors: Jayne DRW, Bruchfeld AN, Harper L, Schaier M, Venning MC, Hamilton P, Burst V, Grundmann F, Jadoul M, Szombati I, Tesař V, Segelmark M, Potarca A, Schall TJ, Bekker P, CLEAR Study Group

Abstract
Alternative C activation is involved in the pathogenesis of ANCA-associated vasculitis. However, glucocorticoids used as treatment contribute to the morbidity and mortality of vasculitis. We determined whether avacopan (CCX168), an orally administered, selective C5a receptor inhibitor, could replace oral glucocorticoids without compromising efficacy. In this randomized, placebo-controlled trial, adults with newly diagnosed or relapsing vasculitis received placebo plus prednisone starting at 60 mg daily (control group), avacopan (30 mg, twice daily) plus reduced-dose prednisone (20 mg daily), or avacopan (30 mg, twice daily) without prednisone. All patients received cyclophosphamide or rituximab. The primary efficacy measure was the proportion of patients achieving a ≥50% reduction in Birmingham Vasculitis Activity Score by week 12 and no worsening in any body system. We enrolled 67 patients, 23 in the control and 22 in each of the avacopan groups. Clinical response at week 12 was achieved in 14 of 20 (70.0%) control patients, 19 of 22 (86.4%) patients in the avacopan plus reduced-dose prednisone group (difference from control 16.4%; two-sided 90% confidence limit, -4.3% to 37.1%; P=0.002 for noninferiority), and 17 of 21 (81.0%) patients in the avacopan without prednisone group (difference from control 11.0%; two-sided 90% confidence limit, -11.0% to 32.9%; P=0.01 for noninferiority). Adverse events occurred in 21 of 23 (91%) control patients, 19 of 22 (86%) patients in the avacopan plus reduced-dose prednisone group, and 21 of 22 (96%) patients in the avacopan without prednisone group. In conclusion, C5a receptor inhibition with avacopan was effective in replacing high-dose glucocorticoids in treating vasculitis.

PMID: 28400446 [PubMed - indexed for MEDLINE]

Swept-Source Optical Coherence Tomography Angiography in West Nile Virus Chorioretinitis and Associated Occlusive Retinal Vasculitis.

dim, 01/10/2017 - 16:45
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Swept-Source Optical Coherence Tomography Angiography in West Nile Virus Chorioretinitis and Associated Occlusive Retinal Vasculitis.

Ophthalmic Surg Lasers Imaging Retina. 2017 Aug 01;48(8):672-675

Authors: Khairallah M, Kahloun R, Gargouri S, Jelliti B, Sellami D, Ben Yahia S, Feki J

Abstract
A 65-year-old man with diabetes and a history of fever of unknown origin 2 weeks earlier complained of sudden decreased vision in the left eye. The patient was diagnosed with bilateral West Nile virus (WNV) chorioretinitis associated with occlusive retinal vasculitis in the left eye. Swept-source optical coherence tomography angiography (SS-OCTA) of the left eye showed extensive, well-delineated, hypointense non-perfusion areas and perifoveal capillary arcade disruption in the superficial capillary plexus, as well as larger non-perfusion areas, capillary rarefaction, and diffuse capillary network attenuation and disorganization in the deep capillary plexus. OCTA may be a valuable tool for noninvasively assessing occlusive retinal vasculitis associated with WNV infection. It allows an accurate detection and precise delineation of areas of retinal capillary nonperfusion in both the superficial and deep capillary plexuses. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:672-675.].

PMID: 28810044 [PubMed - indexed for MEDLINE]

Kidney Transplantation Rates Across Glomerulonephritis Subtypes in the United States.

dim, 01/10/2017 - 16:45
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Kidney Transplantation Rates Across Glomerulonephritis Subtypes in the United States.

Transplantation. 2017 Oct;101(10):2636-2647

Authors: OʼShaughnessy MM, Liu S, Montez-Rath ME, Lafayette RA, Winkelmayer WC

Abstract
BACKGROUND: Whether kidney transplantation rates differ by glomerulonephritis (GN) subtype remains largely unknown.
METHODS: Using the US Renal Data System, we identified all adult patients with end-stage renal disease attributed to 1 of 6 GN subtypes who initiated dialysis in the US (1996-2013). Patients with diabetic nephropathy (DN) and autosomal-dominant polycystic kidney disease (ADPKD) served as "external" non-GN comparators. Using Cox proportional hazards regression, with death considered a competing risk, we estimated hazard ratios (HRs) (95% confidence intervals [CI]) for first kidney transplantation, controlling for year, demographics, comorbidities, socioeconomic factors, and Organ Procurement Organization.
RESULTS: Among 718 480 patients studied, unadjusted and multivariable-adjusted transplant rates differed considerably across GN subtypes. Adjusted transplant rates were highest for patients with IgA nephropathy (IgAN) (referent) and lower for all other groups: focal segmental glomerulosclerosis (HR, 0.80; 95% CI, 0.77-0.82), membranous nephropathy (HR, 0.88; 95% CI, 0.83-0.93), membranoproliferative GN (HR, 0.84; 95% CI, 0.76-0.92), lupus nephritis (HR, 0.69; 95% CI, 0.66-0.71), vasculitis (HR, 0.66; 95% CI, 0.61-0.70), DN (HR, 0.50; 95% CI, 0.47-0.52), ADPKD (HR, 0.85; 95% CI, 0.82-0.88). Reduced kidney transplantation rates among comparator groups were driven more so by lower rates of waitlisting (HRs vs IgAN, ranged from 0.49 for DN to 0.92 for membranous nephropathy or ADPKD) than by lower rates of deceased donor kidney transplantation after waitlisting (rates were only significantly lower, vs IgAN, for those with secondary GN subtypes: lupus nephritis [HR,0.91; 95% CI, 0.86-0.97], vasculitis [HR, 0.85; 95% CI, 0.76-0.94), DN [HR, 0.73; 95% CI, 0.69-0.77]).
CONCLUSIONS: Identifying underlying reasons for apparent disease-specific barriers to kidney transplantation might inform center-specific transplant candidate selection procedures, along with national organ allocation policies, leading to more equitable patient care and improved patient outcomes.

PMID: 28207635 [PubMed - indexed for MEDLINE]

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