Gastrointestinal involvement in patients affected with 22q11.2 deletion syndrome. (March 2014)

• Record Type: Journal Article
• Authors: Giardino, Giuliana; Cirillo, Emilia; Maio, Filomena; Gallo, Vera; Esposito, Tiziana; Naddei, Roberta; Grasso, Fiorentino; Pignata, Claudio
• Is Part Of: Scandinavian journal of gastroenterology. Volume 49:Number 3(2014)
• Page Start: 274
• Page End: 279
• Publication Date: 2014-03
• Subjects: Gastroenterology -- Periodicals; Digestive organs -- Diseases -- Periodicals; 616.33
• DOI: 10.3109/00365521.2013.855814
• Languages: English
• ISSNs: 0036-5521

Abstract

<abstract> <title>Abstract</title> <p> <bold> <italic>Objective.</italic> </bold> Enteropathy is a very common feature in patients with primary immunodeficiencies. In patients with Del22 gastrointestinal (GI) alterations, including feeding disorders and congenital abnormalities have been often reported, mostly in the first year of life. <bold><italic>Material and methods.</italic></bold> Aim of this monocentric study is to better define the GI involvement in a cohort of 26 patients affected with Del22 syndrome. Anamnestic information was retrospectively collected for each patient. Weight and height parameters at the time of the screening were recorded. Plasma levels of hemoglobin, iron, ferritin, albumin, total protein, calcium, phosphorus, transaminase levels, antigliadin (AGA) IgA and IgG, and antitissue transglutaminase (anti-TGase) titers were measured. <bold><italic>Results.</italic></bold> A GI involvement was identified in the 58% of patients. The prominent problems were abdominal pain, vomiting, gastroesophageal reflux and chronic constipation. Weight deficiency, short stature and failure to thrive were reported in 54, 42, and 30% of the patients, respectively. The evidence of sideropenic anemia, in keeping with hypoproteinemia, impaired acid steatocrit or cellobiose/mannitol test suggested an abnormal intestinal permeability. In this cohort, a high prevalence of AGA IgA and IgG positivity was observed. Celiac disease (CD) was suspected in three patients, and in one of them confirmed by histology. In this patient, a long-lasting gluten-free diet failed to restore the intestinal architecture. <bold><italic>Conclusions.</italic></bold> In conclusion, GI involvement is a very common feature in Del22 patients. A better characterization of GI involvement would be very useful to improve the management of these patients.</p> </abstract>