Isolated diffuse mesangial sclerosis in three siblings

WOS: 000072398500029PubMed ID: 9546709

The significance of antineutrophil cytoplasmic antibody in microscopic polyangitis and classic polyarteritis nodosa

Aims-To describe the distribution and features of classic polyarteritis nodosa (PAN) and microscopic polyarteritis (MPA) and the importance of antineutrophil cytoplasmic antibody (ANCA) in childhood PAN

The significance of antineutrophil cytoplasmic antibody in microscopic polyangitis and classic polyarteritis nodosa

AIMS—To describe the distribution and features of classic polyarteritis nodosa (PAN) and microscopic polyarteritis (MPA) and the importance of antineutrophil cytoplasmic antibody (ANCA) in childhood PAN.
METHODS—Classic PAN was diagnosed in 15 patients based on the presence of aneurysms on angiography in 10 patients and of necrotising vasculitis in medium sized arteries in five. MPA was diagnosed in 10 patients, based on characteristic findings at renal biopsy in six and by the presence of small sized necrotising arteritis in four. Serum ANCA was detected initially by indirect immunofluorescence (IIF) followed by an immunoassay for myeloperoxidase (MPO) in each case.
RESULTS—The median age of the patients with classic PAN and MPA was 12 (range 8-17) and 9.5 (range 5-14) respectively. None of the patients with classic PAN had renal failure. Six of the patients with MPA presented with renal failure; four progressed to chronic renal failure. Clinically evident pulmonary-renal syndrome was present in three of the 10 patients with MPA. IIF for ANCA in classic PAN was negative in nine, showed mild staining patterns in six, and in one MPO-ELISA was mildly increased. IIF for ANCA in MPA revealed very strong perinuclear ANCA staining in nine and atypical staining in one. In MPA, median MPO-ELISA level was 42.5 EU/ml (range 20-250). Treatment of childhood PAN was satisfactory with effective treatment; however relapses did occur.
CONCLUSION—ANCA is useful in the diagnosis and follow up of MPA.


Mefv Gene Mutations In Familial Mediterranean Fever Phenotype Ii Patients With Renal Amyloidosis In Childhood: A Retrospective Clinicopathological And Molecular Study

Background. Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring attacks of fever and serositis. The definition of the mutated gene has allowed molecular diagnosis of the disease. The most important complication of FMF is the development of AA type secondary amyloidosis. In a group of patients clinically designated as phenotype 11 amyloidosis patients, renal amyloidosis develops without being preceded by typical attacks of the disease. In this study, the mutations of the MEFV gene were analysed in a group of patients clinically recognized as phenotype II. Methods. DNA samples were obtained from tissue samples of the subjects. PCR-RFLP methods were used to analyse the M694V, M680I, V726A and E148Q mutations that have been previously defined by us to be the most common mutations in our Turkish cohort. Results. The distribution of the four most common mutations among phenotype 11 patients was 38% for M694V, 8% for M680I, 4% for V726A and 4% for E148Q. Conclusions. In phenotype 11 amyloidosis patients, the distribution of the four common MEFV mutations was not significantly different from that found in all FMF patients with typical symptoms who do or do not develop amyloidosis. We therefore suggest that secondary genetic or environmental factors are operative in the development of secondary amyloidosis in patients with FMF.Wo

Polyarteritis nodosa in patients with Familial Mediterranean fever (FMF): A concomitant disease or a feature of FMF?

Background: Familial Mediterranean fever (FMF) is caused by mutations in the gene encoding pyrin and is characterized by self-limited, recurrent attacks of fever and serositis. Vasculitis has been increasingly reported in FMF, A study evaluating the prognosis in FMF and polyarteritis nodosa (PAN) patients has not been reported previously

Shiga toxin 2 affects the central nervous system through receptor globotriaosylceramide localized to neurons

Affinity-purified Shiga toxin (Stx) 2 given intraperitoneally to mice caused weight loss and hind-limb paralysis followed by death. Globotriaosylceramide (Gb(3)), the receptor for Stx2, was localized to neurons of the central nervous system (CNS) of normal mice. Gb3 was not found in astrocytes or endothelial cells of the CNS. In human cadaver CNS, we found Gb(3) in neurons and endothelial cells. Mouse Gb(3) localization was confirmed by immunoelectron microscopy. In Stx2-exposed mice, anti-Stx2-gold immunoreaction was positive in neurons. During paralysis, after Stx2 injection, multiple glial nuclei were observed surrounding motoneurons by electron microscopy. Also revealed was a lamellipodia-like process physically inhibiting the synaptic connection of motoneurons. Ca2+ imaging of cerebral astrocytic end-feet in Stx2-treated mouse brains suggested that the toxin increased neurotransmitter release from neurons. In this article, we propose that the neuron is a primary target of Stx2, affecting neuronal function and leading to paralysis