RESUMO
BACKGROUND: Pseudoxanthoma elasticum (PXE) is a genetic disease caused by mutations in the ABCC6 gene that result in low pyrophosphate levels and subsequent progressive soft tissue calcifications. PXE mainly affects the skin, retina, and arteries. However, many patients with PXE experience kidney stones. We determined the prevalence of this pathology in patients with PXE and examined the possible underlying mechanisms in murine models. METHODS: We conducted a retrospective study in a large cohort of patients with PXE and analyzed urine samples and kidneys from Abcc6-/- mice at various ages. We used Yasue staining, scanning electron microscopy, electron microscopy coupled to electron energy loss spectroscopy, and Fourier transform infrared microspectroscopy to characterize kidney calcifications. RESULTS: Among 113 patients with PXE, 45 (40%) had a past medical history of kidney stones. Five of six computed tomography scans performed showed evidence of massive papillary calcifications (Randall plaques). Abcc6-/- mice spontaneously developed kidney interstitial apatite calcifications with aging. These calcifications appeared specifically at the tip of the papilla and formed Randall plaques similar to those observed in human kidneys. Compared with controls, Abcc6-/- mice had low urinary excretion of pyrophosphate. CONCLUSIONS: The frequency of kidney stones and probably, Randall plaque is extremely high in patients with PXE, and Abcc6-/- mice provide a new and useful model in which to study Randall plaque formation. Our findings also suggest that pyrophosphate administration should be evaluated for the prevention of Randall plaque and kidney stones.
Assuntos
Transportadores de Cassetes de Ligação de ATP/genética , Cálculos Renais/etiologia , Proteínas Associadas à Resistência a Múltiplos Medicamentos/genética , Pseudoxantoma Elástico/genética , Pseudoxantoma Elástico/patologia , Animais , Biópsia por Agulha , Calcinose/genética , Calcinose/patologia , Estudos de Coortes , Modelos Animais de Doenças , Feminino , Humanos , Imuno-Histoquímica , Incidência , Cálculos Renais/epidemiologia , Cálculos Renais/patologia , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Prognóstico , Pseudoxantoma Elástico/complicações , Pseudoxantoma Elástico/diagnóstico por imagem , Estudos Retrospectivos , Medição de Risco , Tomografia Computadorizada por Raios X/métodos , UrináliseRESUMO
OBJECTIVE: The worldwide coronavirus disease 2019 (COVID-19) vaccination campaign triggered several autoimmune diseases. We hereby aimed to describe IgA vasculitis (IgAV) following COVID-19 vaccination. METHODS: We conducted a national, multicenter, retrospective study in France of new-onset adult IgAV diagnosis following COVID-19 vaccination. RESULTS: In total, 12 patients with new-onset IgAV were included. Of these, 5 (41.7%) were women, and the median age was 52.5 (IQR 30.75-60.5) years. Of the 12 patients, 10 had received an mRNA vaccine and 2 had received a viral vector vaccine. The median time from vaccination to onset of symptoms was 11.5 (IQR 4.25-21.25) days. Vasculitis occurred after the first vaccine dose in most patients (n = 8). All patients had skin involvement, with skin necrosis in 4 patients. In total, 7 patients had joint involvement and 2 had arthritis. A total of 4 patients had nonsevere gastrointestinal involvement and 2 had nonsevere renal involvement. The median C-reactive protein level was 26 (IQR 10-66.75) mg/L, the median creatininemia level was 72 (IQR 65-81) µmol/L, and 1 patient had an estimated glomerular filtration rate of less than 60 mL/min at management. All patients received treatment, including 9 patients (75%) who received glucocorticoids. In total, 5 patients received a vaccine dose after developing IgAV, 1 of whom experienced a minor cutaneous relapse. CONCLUSION: The baseline presentation of IgAV following COVID-19 vaccination was mild to moderate, and outcomes were favorable. Thus, a complete COVID-19 vaccination regimen should be completed in this population. Of note, a fortuitous link cannot be ruled out, requiring a worldwide pharmacovigilance search to confirm these findings.
Assuntos
COVID-19 , Vasculite por IgA , Vacinas , Adulto , Humanos , Feminino , Pessoa de Meia-Idade , Masculino , Estudos Retrospectivos , Vacinas contra COVID-19/efeitos adversos , Imunoglobulina A , COVID-19/prevenção & controle , Vacinação/efeitos adversos , Vacinas/uso terapêuticoRESUMO
Atopic dermatitis (AD) is a multifactorial disease that may have a psychosomatic component. In this study, the authors aimed to measure the effect of hypnosis on AD in a clinical setting. Patients with AD who never had systemic treatment were offered hypnosis sessions. Twenty-seven patients with AD and a mean age of 34.5 years participated in a mean of six hypnosis sessions (range 2 to 16). AD severity can be assessed with the Eczema Area and Severity Index (EASI). EASI score was calculated during the first and last hypnosis sessions for 21 patients. Eczema improved or resolved in 26 of the 27 patients. Mean EASI score for the 21 patients evaluated was 12 at the first session and 2.8 at the last session. Hypnosis may be useful in AD and may overcome the need for systemic treatments for some patients.