Shwachman-Diamond syndrome (SDS) is

No abstract

No abstract

for the Gene Modifier Study Group C YSTIC FIBROSIS (CF) IS A REcessive monogenic disorder characterizedbymultiorganinvolvement and clinical heterogeneity that is incompletely explained by mutations within the cystic fibrosis transmembraneconductanceregulator(CFTR) gene (OMIM 602421). 1 Patients with CF, including those homozygous for DF508, smallfraction(Ϸ3%-5%)ofpatientswith CF develops severe liver disease characterized by cirrhosis with portal hypertension (CFLD) 1 ; thus, non-CFTR genetic variability may contribute to risk for severe liver disease. [14][15][16][17] To determine the association between non-CFTR genetic polymorphisms and CFLD, we studied 9 functional variants in 5 genes previously See also Patient Page.

More than 20 years of serological approach to diagnosis of celiac disease (CD) has deeply changed the classical clinical presentation of the disease, and some reports indicate that CD and obesity can coexist in both childhood and adolescence. We reviewed clinical records of 149 children with CD followed in our institution between 1991 and 2007, considering weight, height and body mass index (BMI), both at diagnosis and after at least 12 months of gluten-free diet (GFD). In all, 11% of patients had BMI z-score 4 þ 1 and 3% were obese (z-score 4 þ 2) at presentation. In our population, there was a significant (P ¼ 0.008) increase in BMI z-score after GFD and the percentage of overweight (z-score 4 þ 1) subjects almost doubled (11 vs 21%, P ¼ 0.03). Our data suggest the need for a careful follow-up of nutritional status after diagnosis of CD, especially addressing those who are already overweight at presentation.