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  • Dominant and Recessive RYR1 Mutations in Adults with Core Lesions and Mild Muscle Symptoms
    Publication . Duarte, ST; Oliveira, J; Santos, R; Pereira, P; Barroso, C; Conceição, I; Evangelista, T
    INTRODUCTION: Ryanodine receptor gene (RYR1) mutations have been associated with central core disease (CCD), multiminicore/minicore/multicore disease (MmD), and susceptibility to malignant hyperthermia (MH). METHODS: Patients with muscle symptoms in adulthood, who had features compatible with CCD/MmD, underwent clinical, histological, and genetic (RYR1 and SEPN1 genes) evaluations. Published cases of CCD and MmD with adult onset were also reviewed. RESULTS: Eight patients fulfilled the criteria for further analysis. Five RYR1 mutations, 4 of them unreported, were detected in 3 patients. Compound heterozygosity was proven in 1 case. CONCLUSIONS: To our knowledge, this is the only report of adult onset associated with recessive RYR1 mutations and central core/multiminicores on muscle biopsy. Although adult patients with CCD, MmD, and minimally symptomatic MH with abnormal muscle biopsy findings usually have a mild clinical course, differential diagnosis and carrier screening is crucial for prevention of potentially life-threatening reactions to general anesthesia.
    2011-07Journal article Open access Show more
  • Collapsing Glomerulopathy in Portugal: a Review of the Histological and Clinical Findings in HIV and Non-HIV Patients
    Publication . Ferreira, AC; Carvalho, D; Carvalho, F; Galvão, MJ; Nolasco, F
    BACKGROUND: Collapsing glomerulopathy (CG) is a glomerulonephritis seen in association with human immunodeficiency virus (HIV) infection, known as HIV-associated nephropathy (HIVAN), and less frequently observed in non-HIV-infected patients. Method. The aim of this study was to review the histological and clinical findings of all CG diagnosed since 1981 in our laboratory. Result. Since 1981, 18 kidney biopsies with collapsing features were diagnosed among 6130 biopsies performed: 72.2% (n = 13) males, mean age 33.8 ± 9.7 years, 61.1% (n = 11) of black ethnic origin. HIV infection was present in 10 patients. Mean serum creatinine (Scr) was 4.7 ± 2.5 mg/dL, and mean proteinuria was 6.1 ± 5 g/24 h. Both HIVAN and non-HIVAN patients were similar in terms of age, gender and dialysis requirement. In the HIVAN population, African origin was predominant and more frequent than in the non-HIVAN population, Scr was higher and proteinuria was less severe. Interstitial infiltrate, interstitial fibrosis and tubular atrophy were severe, and the presence of microcystic dilatation of renal tubules was more common. Immunofluorescence was positive in six patients. In the non-HIVAN population, this histological lesion was related to an infectious illness in 6/8 patients and to the use of illegal oral drugs in one patient. Interstitial infiltrate, interstitial fibrosis and tubular atrophy presented as moderate to severe, and tubular atrophy correlated with dialysis requirement. Mesangial proliferation was present in 3/8 patients, with C3 and IgA deposits. CONCLUSION: CG is a rare podocytopathy. In this study, the association between infection and CG is evident, and we may suggest that infections could, in a direct or indirect manner, be a trigger of podocyte injury.
    2011-07Journal article Open access Show more