Cystic fibrosis-associated liver disease in children.

As improvements in nutritional and pulmonary care increase the life expectancy of cystic fibrosis (CF) patients, CF-associated liver disease (CFLD) is emerging as a cause of mortality. CFLD is the third leading cause of death in CF patients. We performed a search on PubMed and Google Scholar for published articles on CFLD. We reviewed the articles found in the literature search and gave priority to recent publications and studies with larger sample sizes. The prevalence of CFLD in the CF population is around 23% with a range of 2-62% and that prevalence increases linearly with age from 3.7% at age 5 to 32.2% at age 30. CFLD can present clinically in various ways such as hepatomegaly, variceal hemorrhage, persistent elevation of liver enzymes, and micro-gallbladder. Due to the focal nature of fibrosis in majority cases of CFLD, liver biopsies are sparsely performed for diagnosis or the marker of liver fibrosis. Although the mechanism of CFLD development is still unknown, many potential factors are reported. Some mutations of CFTR such as having a homozygous F508del mutation has been reported to increase the risk of developing CFLD and its severity. Having the SERPINA1 Z allele, a history of pancreatic insufficiency, a history meconium ileus, CF-related diabetes, or being male increases the risk of developing CFLD. Environmental factors do not appear to have significant effect on modulating CFLD development. Ursodeoxycholic acid is commonly used to treat or prevent CFLD, but the efficacy of this treatment is questionable.

A sequential treatment algorithm for infants with stage 4s neuroblastoma and massive hepatomegaly.

Infants with 4s neuroblastoma (NB) and massive hepatomegaly have a guarded prognosis and mortality approaches 30%. We report on eight patients with 4s NB and massive hepatomegaly treated with multiple modalities. One patient had spontaneous tumor regression. Three patients had progressive disease and responded to chemotherapy. Four patients progressed despite intravenous chemotherapy, of whom two died, and two were salvaged with hepatic intra-arterial chemoembolization. Treatment of infants with stage 4s NB with massive hepatomegaly should be individualized based on disease course. A sequential approach with observation, intravenous chemotherapy, and intra-arterial chemoembolization, may improve the outcome of these infants.

Prognostic Significance of Longitudinal Clinical Congestion Pattern in Chronic Heart Failure: Insights From TIME-CHF Trial.

BACKGROUND: The relationship between longitudinal clinical congestion pattern and heart failure outcome is uncertain. This study was designed to assess the prevalence of congestion over time and to investigate its impact on outcome in chronic heart failure. METHODS: A total of 588 patients with chronic heart failure older than 60 years of age with New York Heart Association (NYHA) functional class ≥II from the TIME-CHF study were included. The endpoints for this study were survival and hospitalization-free heart failure survival. Orthopnea, NYHA ≥III, paroxysmal nocturnal dyspnea, hepatomegaly, peripheral pitting edema, jugular venous distension, and rales were repeatedly investigated and related to outcomes. These congestion-related signs and symptoms were used to design a 7-item Clinical Congestion Index. RESULTS: Sixty-one percent of patients had a Clinical Congestion Index ≥3 at baseline, which decreased to 18% at month 18. During the median [interquartile range] follow-up of 27.2 [14.3-39.8] months, 17%, 27%, and 47% of patients with baseline Clinical Congestion Index of 0, 1-2, and ≥3 at inclusion, respectively, died (P <.001). Clinical Congestion Index was identified as an independent predictor of mortality at all visits (P <.05) except month 6 and reduced hospitalization-free heart failure survival (P <.05). Successful decongestion was related to better outcome as compared to persistent congestion or partial decongestion (log-rank P <0.001). CONCLUSIONS: The extent of congestion as assessed by means of clinical signs and symptoms decreased over time with intensified treatment, but it remained present or relapsed in a substantial number of patients with heart failure and was associated with poor outcome. This highlights the importance of appropriate decongestion in chronic heart failure.

Clinical presentations and complications of hairy cell leukemia.

HCL typically presents in middle-aged men, and is characterized by splenomegaly and cytopenias. Hepatomegaly may be present, but it usually is not a salient feature. Peripheral adenopathy is uncommon. Other organ manifestations occur, but are unusual. patients are now presenting with a less tumor burden, as a result of earlier diagnosis. Leukocytosis/lymphocytosis should suggest HCl variant. Infectious complications, which were common in the past and the major cause of death, have become rare in the era of purine analog therapy. Whether there is a true increased risk for second malignancies remains controversial.

Hepatomegaly with severe steatosis in HIV-seropositive patients.

OBJECTIVE: To describe death attributed to severe hepatomegaly and macrovesicular steatosis without inflammation or necrosis in HIV-seropositive patients without AIDS. PATIENTS: Patients from the AIDS Clinical Trials Group (ACTG) Adverse Reactions and the Food and Drug Administration's (FDA) Spontaneous Report databases. RESULTS: Six fatal and two non-fatal cases in which no known cause of hepatic steatosis could be found were identified. With one possible exception, none of the six fatal cases had a diagnosis of AIDS and all were in reasonable nutritional status (as indicated by weight and/or serum albumin); the majority were mildly to moderately overweight. All had received at least 6 months of antiretroviral therapy, and all had gastrointestinal complaints without other non-hepatic abdominal pathology. At least three out of the six had no history of progressively abnormal liver function tests until a few weeks prior to the onset of symptoms and subsequent death. Further investigation of the FDA and ACTG databases identified two similar but non-fatal cases in which abnormalities resolved after cessation of antiretroviral therapy. CONCLUSIONS: The cases described represent a degree of hepatic abnormalities that has not been reported previously in HIV-seropositive patients, and are probably an underestimate of actual incidence, since patients with possible etiologies of liver disease were excluded from the clinical history, laboratory, microbiologic, or histologic examination. The etiology of hepatic disease may be associated with antiretroviral therapy, HIV, or an unidentifiable infection, and requires further investigation.

[An outbreak of Heliotrope food poisoning, Tadjikistan, November 1992-March 1993]. / Epidémie d'intoxication alimentaire à l'héliotrope, Tadjikistan, novembre 1992-mars 1993.

The seeds and roots of Heliotropium lasocarpium, contain a pyrrolizidine alkaloid which causes toxic liver injury and veno-occlusive disease (VOD), characterised by an occlusive lesion of the centrolobular veins of the liver, when consumed by humans. The Farkhar region of Southern Tadjikistan, was blockaded from May to November 1992. This led to a famine and a delay of two months in the wheat harvest. Heliotropium lasocarpium had time to grow in the fields and their seeds were therefore collected with the wheat. The contaminated wheat was distributed to the population, who milled it and made bread. The first case of liver toxicity was six weeks after the first consumption of the contaminated bread. By March 1993, 3,906 cases had been recorded (attack rate = 4%). The attack rate were 0.4%, 5.4%, 4.0%, 2.8% and 1.5% for the less than 1 year, 1-14 years, 15-30 years, 31-50 years and over 50 years age groups respectively. The overall case fatality ratio (CFR) was 1.3% and increased with age from 0 to 5.9% in the same age groups. Two of the ten collective farms represented 83.3% of the cases attack rate of 16.9% and 23.6%. Four stages of illness were defined. Stage I corresponds to abdominal pain, nausea or vomiting, and asthenia. All stage I patients (55.5%) recovered rapidly. Stage II is an association of Stage I and hepatomegalia (29.9%). Stage III includes ascites in addition to these symptoms (13.7%) and stage IV alteration of consciousness (0.9%). The last case was reported on March 4th 1993.(ABSTRACT TRUNCATED AT 250 WORDS)

Cirrosis hepatiaa en lactante: una forma de presentacion de la tiroinnemia / Hepatic circosis in infant: a form of presentation of thyrosynemia

We present two documented cases of patients with Tyrosinemia type I (Hepatorenal Tyrosinemia) in infants. The most constant imaging findings in target organs: Liver (Hepatic Cirrhosis), Kidneys (Nefromegaly) are described and compared with pathological findings in one case. In the presence of confusing clinical manifestations, radiological findings of hepatic cirrhosis in infants associated with renal involvement are almost diagnostic of this entity.

Se presentan 2 casos documentados de lactantes portadores de Tirosinemia tipo I (Hepatorenal). Se describen los hallazgos imagenológicos principales de ella en los órganos blanco: Hígado (Cirrosis Hepática) y riñones (Nefromegalia) y se confrontan con los de la anatomía patológica en un caso. En un lactante, con un cuadro clínico poco claro, el hallazgo imagenológico de cirrosis hepática sumado a un compromiso renal, deben hacer plantear el diagnóstico de tirosinemia.