scholarly journals An uncommon presentation of a rare disease: A case of anti-glomerular basement membrane disease without renal involvement

2020 ◽  
Vol 31 ◽  
pp. 101282
Author(s):  
Jeremy Polman ◽  
Rory Panzarello ◽  
Pratik Patel ◽  
Vasudev Tati
Nephron ◽  
2021 ◽  
pp. 1-7
Author(s):  
Nobuhisa Morimoto ◽  
Kiyotaka Nagahama ◽  
Takayasu Mori ◽  
Takuya Fujimaru ◽  
Yukio Tsuura ◽  
...  

We report a case of nail-patella syndrome (NPS) with unusual thinning of the glomerular basement membrane (GBM) associated with a novel heterozygous variant in the <i>LMX1B</i> gene. A 43-year-old female patient with a previous diagnosis of NPS, referred to our hospital for persistent proteinuria, underwent a renal biopsy, which revealed minor glomerular abnormalities. She underwent a second renal biopsy at the age of 56 owing to the presence of persistent proteinuria and decline in serum albumin, meeting the diagnostic criteria for nephrotic syndrome. Light microscopy demonstrated glomerulosclerosis and cystic dilatation of the renal tubules. Notably, electron microscopy revealed unusual thinning of the GBM, which is quite different from typical biopsy findings observed in patients with NPS, characterized by thick GBM with fibrillary material and electron-lucent structures. Comprehensive genetic screening for 168 known genes responsible for inherited kidney diseases using a next-generation sequencing panel identified a novel heterozygous in-frame deletion-insertion (c.723_729delinsCAAC: p.[Ser242_Lys243delinsAsn]) in exon 4 of the <i>LMX1B</i> gene, which may account for the disrupted GBM structure. Further studies are warranted to elucidate the complex genotype-phenotype relationship between <i>LMX1B</i> and proper GBM morphogenesis.


2019 ◽  
Vol 3 (1) ◽  
pp. 061-065
Author(s):  
Silva* Natália ◽  
Oliveira Luís ◽  
Frutuoso Mónica ◽  
Morgado Teresa

2020 ◽  
Vol 11 ◽  
Author(s):  
Nellie Bourse Chalvon ◽  
Pauline Orquevaux ◽  
Delphine Giusti ◽  
Gregory Gatouillat ◽  
Thierry Tabary ◽  
...  

IntroductionAnti-glomerular basement membrane (GBM) antibodies are pathogenic antibodies first detected in renal-limited anti-GBM disease and in Goodpasture disease, the latter characterized by rapidly progressive crescentic glomerulonephritis combined with intra-alveolar hemorrhage. Studies have suggested that anti-GBM antibody positivity may be of interest in lupus nephritis (LN). Moreover, severe anti-GBM vasculitis cases in patients with systemic lupus erythematosus (SLE) have been described in the literature, but few studies have assessed the incidence of anti-GBM antibodies in SLE patients.ObjectiveThe main study objective was to determine if positive anti-GBM antibodies were present in the serum of SLE patients with or without proliferative renal damage and compared to a healthy control group.MethodologyThis retrospective study was performed on SLE patients’ sera from a Franco-German European biobank, developed between 2011 and 2014, from 17 hospital centers in the Haut-Rhin region. Patients were selected according to their renal involvement, and matched by age and gender. The serum from healthy voluntary blood donors was also tested. Anti-GBM were screened by fluorescence enzyme immunoassay (FEIA), and then by indirect immunofluorescence (IIF) in case of low reactivity detection (titer &gt;6 U/ml).ResultsThe cohort was composed of 100 SLE patients with proliferative LN (27% with class III, 67% with class IV, and 6% with class V), compared to 100 SLE patients without LN and 100 controls. Patients were mostly Caucasian and met the ACR 1997 criteria and/or the SLICC 2012 criteria. Among the 300 tested sera, no significant levels of anti-GBM antibodies were detected (&gt;10 U/ml) by the automated technique, three sera were found “ambivalent” (&gt;7 U/ml): one in the SLE with LN group and two in the SLE without LN group. Subsequent IIF assays did not detect anti-GBM antibodies.ConclusionAnti-GBM antibodies were not detected in the serum of Caucasian patients with SLE, even in case of renal involvement, a situation favoring the antigenic exposure of glomerular basement membranes. Our results reaffirm the central role of anti-GBM antibodies as a specific diagnostic biomarker for Goodpasture vasculitis and therefore confirm that anti-GBM antibody must not be carried out in patients with SLE (with or without LN) in the absence of disease-suggestive symptoms.


2019 ◽  
Vol 91 (3) ◽  
pp. 64-67 ◽  
Author(s):  
V I Podzolkov ◽  
G K Makhnach ◽  
T I Ishina ◽  
A B Ponomarev ◽  
I D Medvedev

The article analyzes the diagnosis and treatment of anti-GBM antibody disease (Goodpasture's syndrome) - a rare, severe progressive disease, associated with anti-glomerular basement membrane antibody-induced pulmonary hemorrhage and glomerulonephritis. The main problem of this pathology is late diagnosis, resulted in ineffective treatment. The article provides current information on the epidemiology, etiology and pathogenesis, diagnosis, and treatment of Goodpasture’s syndrome, as well as clinical case of a patient with this rare disease.


Author(s):  
R.P. Nayyar ◽  
C.F. Lange ◽  
J. L. Borke

Streptococcal cell membrane (SCM) antiserum injected mice show a significant thickening of glomerular basement membrane (GBM) and an increase in mesangial matrix within 4 to 24 hours of antiserum administration (1,2,3). This study was undertaken to evaluate the incorporation of 3H proline into glomerular cells and GBM under normal and anti-SCM induced conditions. Mice were administered, intraperitoneally, 0.1 ml of normal or anti-SCM serum followed by a 10 µC/g body weight injection of 3H proline. Details of the preparation of anti-SCM (Group A type 12 streptococcal pyogenes) and other sera and injection protocol have been described elsewhere (2). After 15 minutes of isotope injection a chase of cold proline was given and animal sacrificed at 20 minutes, 1,2,4,8,24 and 48 hours. One of the removed kidneys was processed for immunofluorescence, light and electron microscopic radioautographic studies; second kidney was used for GBM isolation and aminoacid analysis.


Author(s):  
Vitória Duarte ◽  
Catarina Ivo ◽  
David Veríssimo ◽  
Sara Franco ◽  
Filipa Bastos ◽  
...  

Diabetes ◽  
1987 ◽  
Vol 36 (6) ◽  
pp. 758-763 ◽  
Author(s):  
M. P. Cohen ◽  
R. Saini ◽  
H. Klepser ◽  
L. G. Vasanthi

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