scholarly journals TMPRSS6 rs855791 Polymorphism Status in Children with Celiac Disease and Anemia

Nutrients ◽  
2021 ◽  
Vol 13 (8) ◽  
pp. 2782
Author(s):  
Klaudia Urbaszek ◽  
Natalia Drabińska ◽  
Anna Szaflarska-Popławska ◽  
Elżbieta Jarocka-Cyrta

Celiac disease (CD) is an autoimmune chronic inflammatory disease occurring in genetically predisposed individuals in response to the intake of gluten. Clinical presentation can be heterogeneous. Iron-deficient anemia (IDA) is one of the most common extra-intestinal manifestations of CD. Although IDA usually reverts with a gluten-free diet (GFD), some patients show persistent IDA, the mechanisms of which are poorly understood. Recent studies suggest an association between the rs855791 polymorphism in the TMPRSS6 gene and persistent IDA in adults with CD. The current study aimed to assess the potential link between rs855791 and persistent IDA in pediatric patients with CD. The study included 106 children diagnosed with CD between 2015 and 2019. Clinical and blood parameters (including blood count, serum iron) were collected at diagnosis and after ≥12 months of GFD, and the rs855791 genotype was assessed for each patient. IDA was present at diagnosis in 25 patients (23.6%); only three (3%) had persistent IDA after GFD. The prevalence of rs855791 genotypes was 9% (n = 10) for TT, 53% (n = 56) for CT, and 38% (n = 40) for CC. There was a tendency toward a higher proportion of the T allele in patients with IDA and lower hemoglobin in the TT genotype but without statistical significance. An association between rs855791 and persistent IDA was not observed. These findings suggest that persistent IDA is uncommon in pediatric patients with CD. The prevalence of rs855791 in children with CD is reported for the first time.

2018 ◽  
Vol 37 (3) ◽  
pp. 243-247 ◽  
Author(s):  
Ashish Joshi ◽  
Sushil Falodia ◽  
Naveen Kumar ◽  
Pawan Gupta ◽  
P. C. Khatri

JPGN Reports ◽  
2021 ◽  
Vol 2 (4) ◽  
pp. e127
Author(s):  
Dory Sample ◽  
Janelle Fouhse ◽  
Seema King ◽  
Hien Q. Huynh ◽  
Levinus A. Dieleman ◽  
...  

2010 ◽  
Vol 47 (3) ◽  
pp. 242-245 ◽  
Author(s):  
Lorete Maria da Silva Kotze ◽  
Renato Mitsunori Nisihara ◽  
Shirley Ramos da Rosa Utiyama ◽  
Paulo Gustavo Kotze ◽  
Petra Mirella Theiss ◽  
...  

CONTEXT: Anti-Saccharomyces cerevisiae antibodies (ASCA), considered serologic markers for Crohn's disease, were described in patients with celiac disease, disappearing after a gluten-free diet. OBJECTIVES: Evaluation of ASCA positivity in patients with Crohn's disease and celiac disease in relation to healthy individuals. METHODS: A total of 145 individuals were studied: 36 with Crohn's disease and 52 with celiac disease, that fulfilled the diagnostic criteria for both affections, and 57 healthy individuals for control. The celiac patients were divided as follow: group CeD I at diagnosis (n = 34), group CeD II with gluten-free diet compliance (n = 13) and group CeD III with transgressions to the diet (n = 5). ASCA IgA and IgG were determined by ELISA. RESULTS: With statistical significance, ASCA IgA were positive in Crohn's disease, celiac disease at diagnosis and celiac disease with diet transgressions; ASCA IgG in Crohn's disease and in all groups with celiac disease. CONCLUSIONS: The detection of ASCA in patients with celiac disease allows to suggest that ASCA is not a specific marker for Crohn's disease, but was associated with the inflammation of the small intestine. The increased levels of positive ASCA may be due to genetic factors and increased intestinal permeability.


2020 ◽  
Vol 8 ◽  
pp. 2050313X2094044
Author(s):  
Alexandre Lemieux ◽  
Natasha Emily Sanchez Vivas ◽  
Julie Powell ◽  
Prévost Jantchou ◽  
Marie-Paule Morin

We present the case of a 12-year-old girl with severe pernio as the sole clinical presentation of celiac disease (CD), without associated gastrointestinal symptoms. Lesions greatly improved once a gluten free diet was initiated. At 5-year follow-up, she remains in clinical remission throughout the year with no pharmacological treatment, without skin lesions flare-up in the winter months.


Nutrients ◽  
2020 ◽  
Vol 12 (6) ◽  
pp. 1547
Author(s):  
Naire Sansotta ◽  
Stefano Guandalini ◽  
Simone Romano ◽  
Karine Amirikian ◽  
Marco Cipolli ◽  
...  

The effects of gluten free diet (GFD) on body mass index (BMI) and growth parameters in pediatric patients with celiac disease (CD) and their dependence on different socio-cultural environments are poorly known. We conducted an international retrospective study on celiac patients diagnosed at the University of Verona, Italy, and at the University of Chicago, Chicago, IL, USA, as underweight. A total of 140 celiac children and 140 controls (mean age 8.4 years) were enrolled in Chicago; 125 celiac children and 125 controls (mean age 7.3 years, NS) in Verona. At time of diagnosis, Italian celiac children had a weight slightly lower (p = 0.060) and a BMI z-score significantly (p < 0.001) lower than their American counterparts. On GFD, Italian celiac children showed an increased prevalence of both underweight (19%) as well as overweight (9%), while American children showed a decrease prevalence of overweight/obese. We concluded that while the GFD had a similar impact on growth of celiac children in both countries, the BMI z-score rose more in American than in Italian celiac children. Additionally, in Italy, there was an alarming increase in the proportion of celiac children becoming underweight. We speculate that lifestyle and cultural differences may explain the observed variations.


Nutrients ◽  
2018 ◽  
Vol 10 (11) ◽  
pp. 1818 ◽  
Author(s):  
Klaudia Feruś ◽  
Natalia Drabińska ◽  
Urszula Krupa-Kozak ◽  
Elżbieta Jarocka-Cyrta

Iron deficiency anemia (IDA) occurs in 15–46% of patients with celiac disease (CD), and in some cases, it may be its only manifestation. Studies in animal models have shown that prebiotics, including inulin, may help to increase intestinal absorption of iron. The aim of this study was to evaluate the effect of a prebiotic, oligofructose-enriched inulin (Synergy 1), on iron homeostasis in non-anemic children and adolescents with celiac disease (CD) in association with a gluten-free diet (GFD). Thirty-four CD patients (4–18 years old) were randomized into two groups receiving Synergy 1 (10 g/day) or a placebo (maltodextrin) for three months. Before and after intervention, blood samples were collected from all patients for assessment of blood morphology, biochemical parameters and serum hepcidin concentration. We found that serum hepcidin concentration after the intervention was significantly decreased by 60.9% (p = 0.046) in the Synergy 1 group, whereas no significant difference was observed in the placebo group. No differences in morphological and biochemical blood parameters (including ferritin, hemoglobin and C-reactive protein (CRP)) were observed after intervention in either group. Given that hepcidin decrease may improve intestinal iron absorption, these results warrant further investigation in a larger cohort and especially in patients with IDA.


2021 ◽  
Vol 1 (1) ◽  
pp. 3-9
Author(s):  
Jeremiah Levine ◽  
Leora Hauptman ◽  
Libia Moy ◽  
Howard Trachtman

<b><i>Background and Objectives:</i></b> Altered gastrointestinal permeability in celiac disease (CD) is mediated by zonulin. The receptor for zonulin is expressed on podocytes. Therefore, we tested the effect of a gluten-free diet (GFD) on albuminuria in pediatric patients with newly diagnosed CD. <b><i>Methods:</i></b> We performed a cohort study comparing urinary albumin (μg): Cr (mg) ratio (ACR) in CD patients versus controls and in response to a GFD. <b><i>Results:</i></b> Children with CD (<i>n</i> = 46) had higher ACR than controls (<i>n</i> = 21), 20.2 ± 5.6 versus 8.4 ± 1.1 μg/mg, <i>p</i> = 0.16 and exceeded 30 μg/mg (microalbuminuria cutoff) in 7/46 cases. Seventeen patients had a follow-up assessment (interval 6.1 ± 0.7 months) on a GFD. Baseline ACR was 20.7 ± 5.2 that fell to 10.4 ± 1.5 μg/mg, <i>p</i> = 0.035. <b><i>Conclusion:</i></b> Children and adolescents with newly diagnosed CD have low-grade albuminuria that is numerically higher than controls and that declined after implementation of a GFD. CD may be associated with reversible defects in the glomerular barrier.


1965 ◽  
Vol 48 (2) ◽  
pp. 155-172 ◽  
Author(s):  
I. Michael Samloff ◽  
John S. Davis ◽  
Eric A. Schenk

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