1,721,691 research outputs found
AUTOIMMUNE HEPATITIS: HALF A CENTURY WITH A CHILDHOOD DISEASE
No full textAutoimmune hepatitis is a severe inflammatory liver disease typical of childhood. This update article illustrate the main novelties on this disorde
Le epatiti autoimmuni sieronegative in età pediatrica
Full text linkDiagnosis of autoimmune hepatitis lies in few biochemical and histological features. None of them is essential and absence of conventional autoantibodies(ANA, SMA, LKM) determines the so called seronegative autoimmune hepatitis. This entity is accepted and
well defined in adult patients while descriptions in childhood are rare. Here we propose a first analysis of existing data, matched with our personal experience,and we attempt to draw an initial description of this group of disorders
Autoimmune hepatitis: a childhood disease
No full textAn ivited review on Autoimmune hepatitis in childhoo
Autoimmune diseases of the liver and biliary tract
No full textA volume update on liver diseases in childre
The inflammatory bowel disease (IBD) associated to autoimmune sclerosing cholangitis (ASC) in children: clinical endoscopic and histological features in a cohort of 49 patients
No full textSteroid free treatment in autoimmune hepatitis: Is azathioprine monotherapy truly a viable option to obtain remission?
No full textNo abstract availabl
Il "fegato grasso" del bambino: malattia o disturbo cosmetico ?
No full textFatty liver disease (FLD) is the term used to describe a spectrum of liver disorders characterized by macrovesicular steatosis. In adults and adolescents alcohol consumption in amounts considered to be harmful to the liver must be excluded. Because of the likehood of having FLD is directly proportional to body mass index, given the increasing prevalence of obesity, non-alcoholic FLD (NAFLD) is an important public health problem. There are two recognized histologic pattern of NAFLD: fatty liver alone and steatohepatitis (NASH). The latter represents a shift from simple steatosis to an inflammatory component. NASH is described by grading that indicates the activity of the inflammatory lesion and by staging that reflects the progressive degree of fibrosis. The presence of fat in the liver can be suggested by various imaging modalities, however no current non invasive methods can distinguish NASH from NAFLD. Liver biopsy remains the gold standard for staging and grading. The presence, degree and pattern of aminotransferase elevation are non specific and do not distinguish between fatty liver alone and NASH. Prevalence of FLD in unselected children is about 10% and it increases with age; in selected population such as obese children it reaches about 50% al cases. Obesity and insulin resistance are key factors in exacerbating hepatic inflammation and fibrogenesis. There is no effective treatment of NAFLD, but there are several approach to this problem including weight reduction by diet and exercise, pharmacologic treatment of insulin resistance and use of drugs such as antioxidant (α-tocopherol) or insulin sensitizer such as metformin
Novità in tema di colestasi genetiche epatocellulari
No full textLe colestasi genetiche “epatocellulari” sono un gruppo eterogeneo di disordini ereditari
della biosintesi, secrezione e/o del circolo entero-epatico degli acidi biliari, dovuta a malfunzione
o assenza della proteina responsabile. Il progresso della conoscenza in questo
campo è stato tumultuoso nell’ultima decade, numerose entità sono state caratterizzate; le
più comuni e note sono le colestasi progressive familiari dove, ad essere perturbata, è la
secrezione dei componenti della bile per mutazione di proteine trasportatrici di membrana.
L’articolo descriverà in particolare le entità patologiche più recentemente descritte:
1. Il difetto della proteina NTCP, co-trasportatore sodio taurocolato, situato sul versante sinusoidale
dell’epatocita, e incaricata di assicurare il re-uptake degli acidi biliari. La mutazione
di questa proteina è stata recentemente decritta in un paziente con ipercolanemia
e deficit di vitamine liposolubili e completa il quadro dei difetti del circolo entero-epatico;
2. Il difetto della proteina TJP2, che si localizza nel contesto delle tight junction con funzione
di impedire il reflusso della bile per via paracellulare. Recentemente è stata pubblicata
una casistica di 8 pazienti con malattia colestatica grave e progressiva che, a pieno
titolo, va ad aggiungersi al gruppo delle colestasi familiari progressive a GGT normali;
3. La malattia da inclusione dei microvilli, è un grave disordine ereditario che comporta
diarrea intrattabile da insufficienza funzionale dell’enterocita e, sovente, colestasi cronica.
Ne è stato recentemente elucidato il meccanismo molecolare da ascriversi alla
mutazione della proteina MY05B implicata nel corretto trafficking degli endosomi, che
comporta il mancato direzionamento della proteina BSEP verso il polo canalicolare
dell’epatocita e lo sviluppo di una colestasi epatocellulare a GGT normali.
Infine, l’ultima parte dell’articolo sarà dedicato alla descrizione dei risultati dell’utilizzo di
farmaci chaperone, che sono in grado di ripristinare parzialmente la corretta espressione
della BSEP mutata in alcuni casi di colestasi progressiva familiare (PFIC) tipo 2
Novel diagnostic and therapeutic strategies in juvenile autoimmune hepatitis
No full textJuvenile autoimmune hepatitis (JAIH) is a rare, chronic, inflammatory disease of the liver characterized by a complex interaction between genetic, immunological, and environmental factors leading to loss of immunotolerance to hepatic antigens. It affects both children and adolescents, most commonly females, and its clinical manifestations are quite variable. JAIH is progressive in nature and if left untreated may lead to cirrhosis and terminal liver failure. Although JAIH was first described almost 50 years ago, there have been few significant advances in the clinical management of these patients, both in terms of available diagnostic tools and therapeutic options. Aminotransferase activity, class G immunoglobulins and autoantibodies are the biomarkers used to diagnose AIH and monitor treatment response alongside clinical and histological findings. Despite their utility and cost-effectiveness, these biomarkers are neither an accurate expression of AIH pathogenic mechanism nor a precise measure of treatment response. Current standard of care is mainly based on the administration of steroids and azathioprine. This combination of drugs has been proven effective in inducing remission of disease in the majority of patients dramatically improving their survival; however, it not only fails to restore tolerance to hepatic autoantigens, but it also does not halt disease progression in some patients, it is often needed life-long and finally, it has deleterious side-effects. The ideal therapy should be enough selective to contrast immune-mediated live damage while preserving or potentiating the ability to develop permanent tolerance vs. pathogenic autoantigens. By reviewing the state of the art literature, this article highlights novel diagnostic and therapeutic strategies for managing pediatric AIH with a special focus on new strategies of immunotherapy. These promising tools could improve the diagnostic algorithm, more accurately predict disease prognosis, and provide targeted, individualized treatment
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