RESUMO
A unique association of two rare genetic diseases--progressive muscular atrophy of the spine and rheumatic pelvic spondylitis--observed in a clinical case is described.
Assuntos
Atrofia Muscular/complicações , Doenças Reumáticas/complicações , Espondilite/complicações , Adolescente , Humanos , Vértebras Lombares , Masculino , Atrofia Muscular/genética , Sacro , Espondilite/genéticaRESUMO
LE cells, ds-DNA antibodies (radioimmunoassay), antinuclear antibodies (ANA) by indirect immunofluorescence (IFI) and anti-ENA antibodies have been sought in 150 clinical cases observed over a 5-year period in the Rheumatology Division of Bari University. For the latter, three parallel techniques were adopted on each serum, each completed by RNA-sensitivity assay for the demonstration of anti-RNP, i.e. IFI, passive haemoagglutination (PHA) and controimmunoelectrophoresis (CIE). The series included systemic lupus erythematodes (SLE), 30 cases; rheumatoid arthritis (RA), 30 cases; progressive systemic sclerosis (PSS), 12 cases; unclassified connective tissue disease (UCTD), 8 cases; mixed connective tissue disease (MCTD), 7 cases; Sjögren's syndrome (SS), 4 cases; dermatomyositis (DM), 3 cases; overlap syndromes (PSS-SLE, SS-SLE), 2 cases; rheumatological and internal miscellanea, 54 cases, LE cells and ds-DNA antibodies were found exclusively in SLE; the anti-ENA were found in various groups of diseases, while the anti-RNP were only demonstrated in the 7 MCTD and in some SLE. Of the three techniques for demonstrating anti-ENA, the PHA proved most sensitive and CIE most specific, whereas IFI was considered most suitable for clinical screening. The clinical aspects of the 7 MCTD faithfully followed the disease picture described by Sharp, but some overlap-syndromes and the unclassified connective tissue diseases did not present anti-RNP. It is also pointed out that nephropathy is not rare in MCTD and that the clinical course of the disease is not always benign. To conclude, it is considered that MCTD merits nosographic autonomy, but further investigations are recommended for more exact nosographical typing of connective tissue diseases.