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[This corrects the article DOI: 10.1093/ckj/sfy108.].
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BACKGROUND: The FAbry STabilization indEX (FASTEX) is an innovative index allowing the assessment of clinical stability over time in Fabry disease patients. This index was developed in a population of 28 male patients with the classical form of Fabry disease. OBJECTIVES: The aim of the study was to test the accuracy of the FASTEX in evaluating Fabry disease stability in 132 male and female patients with classical and non-classical Fabry disease from nine Italian centres and it also aimed to define the sensitivity and specificity of this new tool. In particular, we aimed to investigate the correlation between the FASTEX and clinical judgement in a large-scale cohort of the study population. METHODS: Statistical methods applied to this investigation included the calculation of accuracy, specificity and sensitivity, receiver operating characteristic (ROC) curves and Cohen's κ index related to the FASTEX and clinical judgement. RESULTS: The patient population included 58 males (43.9%). The mean age of the overall population was 46.3 ± 15. 1 years (range 31.2-61.4). The median interval between the two multidisciplinary evaluations used for FASTEX calculation was 398 days. Since no gold standard method is available to define the overall clinical condition of Fabry patients over time, the results of the FASTEX were compared with clinical judgements given by the physicians involved in this study. In this way, the FASTEX classified 121 of 132 (92%) patients correctly. In particular, the FASTEX correctly identified 93% (41/44) of clinically 'unstable' and 91% (80/88) of clinically 'stable' patients. The area under the curve of the ROC related to the FASTEX index cut-off (20) was equal to 0.967, very close to its theoretical maximum (1), which means that it is an excellent test for classifying patients as 'stable' or 'unstable' compared with clinical judgement. In addition, the FASTEX cut-off >20 provides the most acceptable balance between sensitivity and specificity. The Cohen's κ index value obtained in our study was 0.82, showing a highly statistically significant P-value < 0.01 related to the agreement between the FASTEX and clinical judgement. CONCLUSIONS: The FASTEX is demonstrated here to be a specific and sensitive tool. When applied to a large cohort of Fabry patients, it was shown to be a valid instrument in helping physicians to discriminate objectively the clinical stability of individual Fabry patients.
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The polycystic kidney disease is a genetic disease, therefore clinical features are not referred just to the affected person, but also to the other members of the family. On the other hand, the disease causes systemic involvement and it requires the contribution of different specialists such as nephrologist, geneticist, radiologist and others. Therefore, the establishment of outpatient clinics, in which a multidisciplinary team assesses the clinical features of patients belonging to the same family, is recommended.
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Enfermedades Renales Poliquísticas/cirugía , Procedimientos Quirúrgicos Ambulatorios , Humanos , Guías de Práctica Clínica como AsuntoRESUMEN
A case of granulomatous interstitial nephritis (GIN) associated with Crohn's disease (CD) was reported. GIN is a rare pathological finding in renal biopsy specimens. In a patient affected by CD, granulomas may be found in various tissues and organs such as lymph nodes, mesentery, liver, and lungs and occasionally in bones, joints, and skeletal muscle. Few cases of granuloma have been reported in the kidney, and it is not always possible to relate the presence of granuloma to CD, to other interstitial granulomatosis diseases, or to a drug-induced reaction. The issue has a remarkable clinical effect; indeed, the answer requires a completely different therapeutic approach. The diagnosis analysis on the basis of clinical-pathological evidences and on reports from literature is discussed.