ABSTRACT
Resumen: La Enfermedad de Wilson es un trastorno genético raro que puede presentarse a cualquier edad y se caracteriza por el depósito de cobre a nivel hepático y cerebral. La afectación hepática abarca desde formas asintomática hasta falla hepática fulminante o cirrosis. Su diagnóstico precoz tiene implicancias pronósticas ya que el tratamiento puede lograr un balance negativo de cobre, permitir el control sintomático y prevenir la progresión de la enfermedad. Se presenta el caso de un hombre de 27 años, con dolor abdominal, en el que se hizo el diagnóstico de Enfermedad de Wilson a partir de una hipertransaminasemia leve. Los hallazgos que orientaron al diagnóstico fueron una cupruria aumentada por inducción con D-penicilamina y una cuantificación de cobre en tejido hepático seco elevada. Con un estadio de fibrosis leve, se comenzó tratamiento con D-penicilamina con buena tolerancia y la normalización de las alteraciones bioquímicas.
Abstract: Wilson's disease is a rare genetic disorder that can occur at any age and is characterized by copper deposition in the liver and brain. Liver involvement ranges from asymptomatic forms to fulminant hepatic failure or cirrhosis. Its early diagnosis has prognostic implications since the treatment can achieve a negative copper balance, allow symptomatic control and prevent the progression of the disease. We present the case of a 27-year-old man with abdominal pain, who was diagnosed with Wilson's disease from mild hypertransaminasemia. The findings that led to the diagnosis were an increased cupruria by induction with D-penicillamine and a quantification of copper in elevated dry liver tissue. With a stage of mild fibrosis, treatment with D-penicillamine was started with good tolerance and normalization of biochemical alterations.
Resumo: Doença de Wilson é uma doença genética rara que pode ocorrer em qualquer idade e é caracterizada pela deposição de cobre no fígado e no cérebro. O envolvimento do fígado varia de formas assintomáticas a insuficiência hepática fulminante ou cirrose. Seu diagnóstico precoce tem implicações prognósticas, uma vez que o tratamento pode alcançar um balanço negativo do cobre, permitir o controle sintomático e prevenir a progressão da doença. Apresentamos o caso de um homem de 27 anos com dor abdominal, diagnosticado com doença de Wilson de hipertransaminasemia leve. Os achados que levaram ao diagnóstico foram aumento da cuprúria por indução com D-penicilamina e quantificação de cobre em tecido hepático seco elevado. Com uma fase de fibrose leve, o tratamento com D-penicilamina foi iniciado com boa tolerância e normalização das alterações bioquímicas.
ABSTRACT
INTRODUCTION: Variceal bleeding is a frequent and serious complication of cirrhosis. Early detection of varices by videogastroscope (VGC) is recommended in all patients with cirrhosis to determine the need for prophylactic treatment. Have been described noninvasive markers of the presence of esophageal varices, which could prevent the realization of VGC for that purpose. OBJECTIVE: To determine and compare noninvasive (longitudinal diameter of spleen, platelet count, platelet reason / spleen) as predictors of the presence of esophageal varices. MATERIAL AND METHODS: We retrospectively studied 125 patients with cirrhosis from any cause. They had VGC, blood count and abdominal ultrasonography. The diagnostic accuracy for determining the presence of esophageal varices or large varices according to the different variables was studied using the area under the ROC curve (AUROC). RESULTS: The prevalence of esophageal varices was 63.2
were diagnosed with large varices. The reason platelets/spleen and platelet count showed an AUROC of 0.74 for the detection of esophageal varices. The cut-off for the ratio platelets / spleen was 1.010 (sensitivity 72.15
) for the presence of varices and 870 for the presence of clinically significant varices (sensitivity 62.26
). The analysis according to these breakpoints showed that 23.6
of patients with scores higher than 1,010 had large varices and 45
of patients with values lower than 870 had not large varices. CONCLUSIONS: Although the reason platelets/spleen showed an AUROC acceptable, its implementation would entail a risk of not diagnosing large varices in almost a quarter of the population studied.
Subject(s)
Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Platelet Count , Spleen/pathology , Esophageal and Gastric Varices/diagnosis , Liver Cirrhosis/complications , Biomarkers , Esophageal and Gastric Varices/etiology , Esophageal and Gastric Varices/pathology , Cross-Sectional Studies , Predictive Value of Tests , Retrospective Studies , ROC Curve , Sensitivity and Specificity , Liver Cirrhosis/pathologyABSTRACT
INTRODUCTION: Primary biliary cirrhosis (PBC) is a chronic cholestatic, autoimmune, liver disease produced by inflammation and destruction of the interlobular bile ducts. It is more frequent among female patients and is usually diagnosed in the fifth decade of life. OBJECTIVE: Our objective was to describe the clinical and epidemiological characteristics of patients with PBC in Uruguay. MATERIAL AND METHODS: This descriptive study included patients from 3 medical centers diagnosed with PBC in the period January 2002 to September 2011. The diagnosis was based on the presence of at least two of the following requirements: cholestasis, antimitochondrial antibodies (AMA) (or AMA subtype 2) or positive antinuclear antibodies (ANA) (anticentromere pattern) and compatible biopsy. Data recorded were sex, age, symptoms, related illness, laboratory results, images and histology at the moment of the diagnosis. RESULTS: We included 81 patients, 94
were women and the mean age was 56 years old (range: 31 to 79 years old). Symptoms were present in 59 patients (73
) and pruritus, found in 51 of them (86
), was the most frequent symptom. Positive AMA was found in 84
of cases. Histological study was available in 35 patients (43
) and 13 of them (37
) had cirrhosis. The mean survival according to the presence or absence of cirrhosis was 9.17 years (95
confidence interval: 6.79-11.56) and 10.7 years (95
confidence interval: 9.27-12.14), respectively (P = 0.03). CONCLUSIONS: Female predominance and frequent association with other autoimmune diseases were confirmed in this group. Although there was a high percentage of symptomatic and cirrhotic patients at diagnosis, only the presence of cirrhosis was associated with a lower survival.