Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease.

BACKGROUND: Gaucher disease (GD) is an autosomal recessive disorder produced by mutations in the glucocerebrosidase gene (GBA), causing storage of glucosylceramide in reticuloendothelial cells in multiple organs. Traditionally, the prediction of the phenotype based on the genotype has been reported to be limited. SUBJECTS AND METHODS: We investigated the correlation between the enzymatic residual activity (ERA) and the phenotype at diagnosis of the disease in 45 GD Spanish patients (44 with type I and 1 with type III GD). The genotype involved two of the following previously expressed proteins: c.517A > C (T134P), 1%; c.721G > A (G202R), 17%; c.1090G > T (G325W), 13.9%; c.1208G > A (S364N), 4.1%; c.1226A > G (N370S), 17.8%; c.1246G > A (G377S), 17.6%; c.1289C > T (P391L), 8.5%; c.1448T > C (L444P), 3%; and c.1504C > T (R463C), 24.5%. Recombinant alleles, deletion of 55 bp in exon 9 and 84GG mutation were considered as mutations with no residual enzymatic activity. RESULTS: The ERA showed a statistically significant correlation with chitotriosidase (P < 0.001), age (P < 0.001), spleen size (P < 0.001), 'Zimran's Severity Score Index' (P < 0.01) and the 'Gaucher Disease Severity Score Index-Type I' (P < 0.0001) at diagnosis of the disorder. Previous to any medical intervention, a comparison between the ERA and bone involvement, demonstrated a statistically significant relationship (P < 0.01) between the two variables. CONCLUSIONS: This study data allowed us to define a new criterion for prognostic assessment of the disease at diagnosis, called Protein Severity Index, which expresses the theoretical severity of the genotype presented by patients, according to the corresponding ERA.

[Pyogenic and non-pyogenic vertebral osteomyelitis: descriptive and comparative study of a series of 40 cases]. / Osteomielitis vertebral piógena y no piógena: estudio descriptivo y comparativo de una serie de 40 casos.

BACKGROUND: To describe the features of vertebral osteomyelitis (VO) in our area, and to compare pyogenic VO (PVO) and non-pyogenic VO (NPVO). METHODS: Retrospective study of patients with VO diagnosed in our hospital between january 1992 and december 1998. RESULTS: We identify 40 patients with VO: 17 (42.5%) with tuberculous VO, 12 (30%) with PVO, 10 (25%) with brucellar VO and 1 (2.5%) with a VO caused by Candida albicans. The mean age was 52.9 years, and 75% of patients were male. Only a 20% of cases had a known immunosuppression. Fever/febricule was present in 55% of patients and vertebral pain in 95%. The more frequent locations were lumbar (67.5%) and dorsal (27.5%). One or more paravertebral or epidural abscesses were present in 67.5% of cases and spinal cord compression was present in 27.5%. An elevated erythrocyte sedimentation rate (ESR) was present in 40% and leukocytosis in 27.5%. Sequelae after complete treatment occurred in 40% of patients, with residual vertebral pain in 37.5%. There was a shorter clinical course and a higher frequency of fever/febricule and leukocytosis in PVO than in NPVO. CONCLUSIONS: In our area the more frequent etiology of VO is tuberculosis. VO occurs predominantly in males older than 50 years, without known immunosuppression, and almost exclusively with lumbar or dorsal locations. The absence of fever/febricule, leukocytosis or elevated ESR do not exclude the diagnosis of VO. Sequelae after complete treatment are relatively frequent, fundamentally residual vertebral pain. There are some differences in the features between PVO and NPVO, which may aid in the differential diagnosis of both entities.

Retinal vasculitis associated with Crohn's disease.

Although systemic vasculitis can be a complication of inflammatory bowel disease at several locations (skin, eyes, brain, mesentery, and lung) the association of retinal vasculitis with Crohn's disease is rare. We studied a 26-year-old woman with biopsy-demonstrated Crohn's disease who developed a severe bilateral retinal arteritis and phlebitis, with acute loss of vision.

[Acute renal failure associated with 5-aminosalicylic acid in inflammatory bowel disease]. / Insuficiencia renal aguda asociada a ácido 5-aminosalicílico en la enfermedad inflamatoria intestinal.

A case of acute renal failure with characteristics of interstitial nephritis associated to treatment with mesalazine (5-ASA bound to resin) in a 26-year old patient with a 7-year history of Crohn's disease is presented. The patient had been previously treated with 5-ASA with no alterations in renal function being observed. Renal failure became manifest several days after initiation of maintenance therapy with 5-ASA during the latest outbreak of intestinal inflammatory disease and disappeared upon suppression of the drug.