12 research outputs found
Impact of COVID-19 in patients with autoimmune bullous diseases:Report from an international registry
S2k guidelines on the management of paraneoplastic pemphigus/paraneoplastic autoimmune multiorgan syndrome initiated by the European Academy of Dermatology and Venereology (EADV).
BACKGROUND
Paraneoplastic pemphigus (PNP), also called paraneoplastic autoimmune multiorgan syndrome (PAMS), is a rare autoimmune disease with mucocutaneous and multi-organ involvement. PNP/PAMS is typically associated with lymphoproliferative or haematological malignancies, and less frequently with solid malignancies. The mortality rate of PNP/PAMS is elevated owing to the increased risk of severe infections and disease-associated complications, such as bronchiolitis obliterans.
OBJECTIVES
These guidelines summarize evidence-based and expert-based recommendations (S2k level) for the clinical characterization, diagnosis and management of PNP/PAMS. They have been initiated by the Task Force Autoimmune Blistering Diseases of the European Academy of Dermatology and Venereology with the contribution of physicians from all relevant disciplines. The degree of consent among all task force members was included.
RESULTS
Chronic severe mucositis and polymorphic skin lesions are clue clinical characteristics of PNP/PAMS. A complete assessment of the patient with suspected PNP/PAMS, requiring histopathological study and immunopathological investigations, including direct and indirect immunofluorescence, ELISA and, where available, immunoblotting/immunoprecipitation, is recommended to achieve a diagnosis of PNP/PAMS. Detection of anti-envoplakin antibodies and/or circulating antibodies binding to the rat bladder epithelium at indirect immunofluorescence is the most specific tool for the diagnosis of PNP/PAMS in a patient with compatible clinical and anamnestic features. Treatment of PNP/PAMS is highly challenging. Systemic steroids up to 1.5Â mg/kg/day are recommended as first-line option. Rituximab is also recommended in patients with PNP/PAMS secondary to lymphoproliferative conditions but might also be considered in cases of PNP/PAMS associated with solid tumours. A multidisciplinary approach involving pneumologists, ophthalmologists and onco-haematologists is recommended for optimal management of the patients.
CONCLUSIONS
These are the first European guidelines for the diagnosis and management of PNP/PAMS. Diagnostic criteria and therapeutic recommendations will require further validation by prospective studies
Autoimunitni pucharnate dermatozy postihujici dermoepidermalni junkci.
Available from STL Prague, CZ / NTK - National Technical LibrarySIGLECZCzech Republi
Autoimunitni puchyrnate dermatozy postihujici dermoepidermalni junkci
Available from STL Prague, CZ / NTK - National Technical LibrarySIGLECZCzech Republi
Multicenter prospective study on multivariant diagnostics of autoimmune bullous dermatoses using the BIOCHIPTM technology.
BACKGROUND
The current standard in the serological diagnosis of autoimmune bullous diseases (AIBD) is a multistep procedure sequentially applying different assays. In contrast, the BIOCHIPTM mosaic technology combines multiple substrates for parallel analysis by indirect immunofluorescence (IF).
METHODS
Sera from 749 consecutive, prospectively recruited, direct IF positive AIBD patients from 13 international study centers were analyzed independently and blinded using (i) a BIOCHIPTM mosaic including primate esophagus, salt-split skin, recombinant BP180 NC16A and gliadin GAF3x as well as HEK293 cells expressing recombinant desmoglein1, desmoglein3, type VII collagen, and BP230 C-terminus and (ii) the conventional multistep approach of the Department of Dermatology, University of LĂĽbeck.
RESULTS
In 731 of 749 sera (97.6%) specific autoantibodies could be detected using the BIOCHIPTM mosaic, similar to the conventional procedure (725 cases, 96.8%). Cohens Îş for both serological approaches ranged from 0.84 to 1.00. In 6.5% of sera, differences between the two approaches occurred and were mainly attributed to autoantigen fragments not present on the BIOCHIPTM mosaic.
LIMITATIONS
Laminin 332 and laminin Îł1 are not represented on the BIOCHIPTM mosaic.
CONCLUSIONS
The BIOCHIPTM mosaic is a standardized, time- and serum-saving approach that further facilitates the serological diagnosis of AIBD
Corrigendum:S2k guidelines on the management of paraneoplastic pemphigus/paraneoplastic autoimmune multiorgan syndrome initiated by the European Academy of Dermatology and Venereology (EADV)
In the version of this article initially published,1 Prof. Angelo Valerio Marzano affiliation was listed as “Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy”. His correct affiliations are the 3Dermatology Unit, Fondazione IRCCS Ca′ Granda Ospedale Maggiore Policlinico, Milan, Italy and 56Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy. The error has been corrected in the online version of the article.</p
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S2k guidelines on the management of paraneoplastic pemphigus/paraneoplastic autoimmune multiorgan syndrome initiated by the European Academy of Dermatology and Venereology (EADV)
BackgroundParaneoplastic pemphigus (PNP), also called paraneoplastic autoimmune multiorgan syndrome (PAMS), is a rare autoimmune disease with mucocutaneous and multi-organ involvement. PNP/PAMS is typically associated with lymphoproliferative or haematological malignancies, and less frequently with solid malignancies. The mortality rate of PNP/PAMS is elevated owing to the increased risk of severe infections and disease-associated complications, such as bronchiolitis obliterans.ObjectivesThese guidelines summarize evidence-based and expert-based recommendations (S2k level) for the clinical characterization, diagnosis and management of PNP/PAMS. They have been initiated by the Task Force Autoimmune Blistering Diseases of the European Academy of Dermatology and Venereology with the contribution of physicians from all relevant disciplines. The degree of consent among all task force members was included.ResultsChronic severe mucositis and polymorphic skin lesions are clue clinical characteristics of PNP/PAMS. A complete assessment of the patient with suspected PNP/PAMS, requiring histopathological study and immunopathological investigations, including direct and indirect immunofluorescence, ELISA and, where available, immunoblotting/immunoprecipitation, is recommended to achieve a diagnosis of PNP/PAMS. Detection of anti-envoplakin antibodies and/or circulating antibodies binding to the rat bladder epithelium at indirect immunofluorescence is the most specific tool for the diagnosis of PNP/PAMS in a patient with compatible clinical and anamnestic features. Treatment of PNP/PAMS is highly challenging. Systemic steroids up to 1.5 mg/kg/day are recommended as first-line option. Rituximab is also recommended in patients with PNP/PAMS secondary to lymphoproliferative conditions but might also be considered in cases of PNP/PAMS associated with solid tumours. A multidisciplinary approach involving pneumologists, ophthalmologists and onco-haematologists is recommended for optimal management of the patients.ConclusionsThese are the first European guidelines for the diagnosis and management of PNP/PAMS. Diagnostic criteria and therapeutic recommendations will require further validation by prospective studies
Corrigendum: S2k guidelines on the management of paraneoplastic pemphigus/paraneoplastic autoimmune multiorgan syndrome initiated by the European Academy of Dermatology and Venereology (EADV).
In the version of this article initially published,1 Prof. Angelo Valerio Marzano affiliation was listed as “Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy”. His correct affiliations are the 3Dermatology Unit, Fondazione IRCCS Ca′ Granda Ospedale Maggiore Policlinico, Milan, Italy and 56Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy. The error has been corrected in the online version of the article.</p
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes
There have been few clinical or scientific reports of autosomal dominant tubulointerstitial kidney disease due to REN mutations (ADTKD-REN), limiting characterization. To further study this, we formed an international cohort characterizing 111 individuals from 30 families with both clinical and laboratory findings. Sixty-nine individuals had a REN mutation in the signal peptide region (signal group), 27 in the prosegment (prosegment group), and 15 in the mature renin peptide (mature group). Signal group patients were most severely affected, presenting at a mean age of 19.7 years, with the prosegment group presenting at 22.4 years, and the mature group at 37 years. Anemia was present in childhood in 91% in the signal group, 69% prosegment, and none of the mature group. REN signal peptide mutations reduced hydrophobicity of the signal peptide, which is necessary for recognition and translocation across the endoplasmic reticulum, leading to aberrant delivery of preprorenin into the cytoplasm. REN mutations in the prosegment led to deposition of prorenin and renin in the endoplasmic reticulum-Golgi intermediate compartment and decreased prorenin secretion. Mutations in mature renin led to deposition of the mutant prorenin in the endoplasmic reticulum, similar to patients with ADTKD-UMOD, with a rate of progression to end stage kidney disease (63.6 years) that was significantly slower vs. the signal (53.1 years) and prosegment groups (50.8 years) (significant hazard ratio 0.367). Thus, clinical and laboratory studies revealed subtypes of ADTKD-REN that are pathophysiologically, diagnostically, and clinically distinct