[Cholestatic liver disease in children].

Cholestatic liver disease constitutes a large part of chronic liver diseases during infancy. It is caused either by extrahepatic disorders (obstruction) or by intrahepatic cholestasis (functional). The differential diagnosis should be done as early as possible because the delayed surgical therapy in extrahepatic cholestasis has a very bad prognosis.

Magnesium status in children and adolescents with coeliac disease without malabsorption symptoms.

Background & Aims: Magnesium deficiency has been reported in coeliac disease (CD) with clinical symptoms. The aim of this study was to evaluate magnesium status in CD without malabsorption symptoms in patients aged 5-18 years. In the study participated 41 coeliac patients on a gluten-free diet (GFD) for a mean 11 years with IgAEmA (-) and normal villi, 28 patients with untreated subclinical (atypical) CD with IgAEmA (+) and villous atrophy, and 8 healthy subjects as a control group.

[Individual sensitivity of jejunal mucosa to small doses of gluten in coeliac disease ].

In coeliac patients the age of development of symptoms, clinical picture of the disease and complications depend on the dose of ingested gluten. The aim of the study was the evaluation of individual sensitivity to small doses of gluten in the group of 60 patients aged 2.65 to 17.

[Reasons for magnesium deficiency in children with coeliac disease].

Unlabelled: Magnesium (Mg) deficiency is often noted in patients with coeliac disease (CD). The aim of the study was the analysis of the reasons of this deficiency in children with CD, diagnosed according to ESPGAN criteria.

Material: The study was performed on 41 patients aged 6-18 years adhering to strict gluten-free diet GFD(+) for mean 11 years, with normal small intestine mucosa, and IgAEmA(-), and on 32 patients aged 5-17 years on gluten containing diet, with classical CD, silent CD or after gluten challenge--GFD(-).

Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene.

Mutations in the human gene Jagged1 (JAG1) localized in 20p12 have been recently identified as causal for the anomalies found in patients with Alagille syndrome (AGS). This gene encodes a ligand for the Notch1 transmembrane receptor, which plays a key role in cell-to-cell signaling during differentiation and is conserved from C. elegans to human.