Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome).

Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human IDS gene is located in chromosome Xq28. This is the first report of genotype and phenotype characterization of 49 Hunter patients from 40 families of Argentina. Thirty different alleles have been identified, and 57% were novel. The frequency of de novo mutations was 10%. Overall, the percentage of private mutations in our series was 75%.

Fabry disease in Argentina: an evaluation of patients enrolled in the Fabry Registry.

AIMS: Fabry disease (FD) is an X-linked inborn error of metabolism caused by alpha-galactosidase A deficiency. The Fabry Registry is an ongoing, global observational database that compiles clinical data from patients with FD. METHODS: Demographic and baseline clinical characteristics of Fabry Registry patients enrolled in Argentina were analysed and compared with patients enrolled in the rest of the world (ROW). Baseline clinical parameters included chronic kidney disease (CKD) stage, urine protein-to-creatinine ratio and left ventricular posterior wall thickness. Only data from untreated patients were included. RESULTS: As of 1 October 2010, 3752 patients were enrolled in the Registry, 70 patients from Argentina and 3682 from the ROW. Argentinean male subjects were younger than Fabry Registry male subjects enrolled in ROW: mean current age 32.5 years vs. 39.0 years for men (p = 0.0257 by t-test). The current age (mean ± standard deviation) of female subjects enrolled in Argentina was not significantly different from that of female subjects enrolled in the ROW: 40.1 ± 17.28 vs. 43.2 ±17.95 years respectively (p = 0.2967). Overall, a smaller percentage of patients from Argentina received ERT compared with patients in the ROW (54% vs. 58% respectively). When evaluated by gender, more men and fewer women in Argentina received ERT compared with ROW (85% vs. 79% for men and 27% vs. 38% for women). A larger proportion of patients in ROW had severe CKD (stage 4 or 5) compared with Argentina (9.8% vs. 0%), most likely because of the older age of the ROW population. CONCLUSIONS: The enrolment of Argentinean patients into the Fabry Registry has steadily increased, as has the inclusion of female and paediatric patients with FD. The medical community in Argentina should be aware of FD in these populations, as awareness will facilitate prompt diagnosis and initiation of treatment, thus leading to improved outcomes.

Enfermedades autoinmunes y autoinmunidad fisiológica: el reconocimiento de la propia identidad / Autoinmune diseases and physiological autoinmunity: recognition of its own

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[Isotypic characterization of IgA paraproteins: association with other clinical and analytic data]. / Caracterización isotípica de paraproteínas IgA: asociación con otros datos clínicos y analíticos.

A study was conducted to investigate the relationships between the characteristics of IgA paraprotein and the clinical findings in a group of 196 patients. In 19 cases IgA paraprotein was associated with another monoclonal immunoglobulin (IgG or IgM); the other 177 patients had a single IgA paraprotein; 145 of them corresponded to multiple myeloma (MM) and the other 32 to other diagnostics. Class and type of paraproteins were identified by immunoelectrophoresis and subclass by an enzyme-immunoassay specifically developed for this study. The degree of polymerization of the protein was determined by gel filtration; quantitation of monoclonal IgA and polyclonal IgG and IgM was obtained by kinetic nephelometry. Out of 196 paraproteins, 96.4% were classified in IgA1 subclass and only 3.6% in IgG2. In 14 cases, all of them diagnosed with MM, monoclonal IgA in serum was associated with Bence-Jones protein; in more than 78% of them light chains corresponded to type lambda, whereas type kappa predominated (over 60%) in cases without Bence-Jones protein in serum. Significantly higher serum levels of monoclonal IgA were associated with the diagnosis of myeloma, with type kappa paraproteins, and with the presence of Bence-Jones protein in serum. The cases with two paraproteins (IgA and IgG or IgM) had significantly lower serum levels of IgA, with comparable levels of total paraprotein (the addition of both monoclonal immunoglobulins). Serum levels of polyclonal IgG and IgM, which appeared decreased in cases of MM, were normal in cases with other conditions. In all these cases, monoclonal IgA showed a monomeric character, whereas relevant amounts of polymerized IgA paraprotein was found in almost a third part of myeloma cases, particularly in those with higher serum levels of paraprotein, or when paraprotein belonged to type kappa. The 5 IgA2 paraproteins analyzed had a polymeric character. In conclusion, a detailed, both qualitative and quantitative, analysis of IgA paraproteins can lead to a better knowledge of conditions associated with their presence and at the same time provides useful data for a clinical evaluation of patients.

Follicular spicules of the nose: a peculiar cutaneous manifestation of multiple myeloma with cryoglobulinemia.

We describe a patient with multiple myeloma and cryoglobulinemia who had spicules with a horny appearance in the follicular openings of the face, particularly on the nose. Histopathologic study demonstrated that these spicules consisted of eosinophilic homogeneous deposits in the intercellular spaces between keratinocytes in the upper layers of the follicular infundibulum. Direct immunofluorescence, ultrastructural, and biochemical investigations revealed that these eosinophilic deposits were cryoprecipitates composed of IgG-kappa with electrophoretic characteristics identical to those of the paraprotein present in the serum of the patient. Hence we believe that these lesions are best referred to as pseudohyperkeratotic spicules of the nose, and that they are a characteristic cutaneous manifestation of patients with multiple myeloma and cryoglobulinemia.

[Immunological and biochemical factors associated with spontaneous bacterial peritonitis]. / Factores inmunológicos y bioquímicos relacionados con la peritonitis bacteriana espontánea.

A prospective study (June 1988-December 1989) of all patients admitted with ascites due to cirrhosis was undertaken: Biochemical and immunological factors which may have significance in the development of spontaneous bacterial peritonitis were determined. Among 56 patients (44 males and 12 females) SBP developed in 16% of the group. No age differences were found and the etiology of the cirrhosis was mainly alcoholic. Patients with SBP had lower alpha-2 globulin concentrations: 0.43 +/- 0.12 vs. 0.60 +/- 0.18 g/dl (p less than 0.05) and a lower prothrombin time: 41 +/- 13% vs. 69.5 +/- 13 vs. 69.5 +/- 21% (p less than 0.001). Patients with SBP had also lower ascitic fluid total protein 0.99 +/- 0.4 vs. 1.64 +/- 1.1 g/dl (p less than 0.01) as well as lower alfa-2 globulin: 0.065 +/- 0.012 vs. 0.096 +/- 0.067 g/dl (p less than 0.05); beta globulin, 0.11 +/- 0.047 vs. 0.2 +/- 0.17 g/dl (p less than 0.05); gamma globulin, 0.32 +/- 0.1 vs. 0.52 +/- 0.4 g/dl (p less than 0.05); IgG, 275 +/- 157 vs. 477 +/- 335 g/dl (p less than 0.05); C3, 9.2 +/- 3.2 vs. 17 +/- 13 mg/dl (p less than 0.01) and C4, 2.83 +/- 1.5 vs. 4.66 +/- 3.9 mg/dl (p less than 0.05) than patients without this complication.

[Anti-env and anti-gag antibodies in subjects infected with the human immunodeficiency virus]. / Anticuerpos anti-env y anti-gag en sujetos infectados con el virus de la inmunodeficiencia humana.

Antibodies to antigens codified by the env and gag genes of HIV were separately assayed for in the sera of 150 infected people. From a practical standpoint, enzyme immunoassay was a more convenient and reliable technique than Western blot. Anti-env was positive in 100% and anti-gag in 70% of the cases. A positive anti-env test was confirmatory of serological diagnosis, but lacked any prognostic value. A higher frequency of negative results for anti-gag antibody was significantly associated with the presence of more severe clinical manifestations, more profound impairment of lymphocyte subpopulations (especially CD4 cells), and the finding of HIV antigens in blood. The absence of anti-gag antibodies, which seem to behave as protective, is an unfavorable feature in the clinical and immunological evaluation of patients.