Gastrointestinal involvement in patients affected with 22q11.2 deletion syndrome.

[22q11.2 deletion syndrome]

OBJECTIVE . Enteropathy is a very common feature in patients with primary immunodeficiencies . In patients with Del 22 gastrointestinal (GI ) alterations , including feeding disorders and congenital abnormalities have been often reported , mostly in the first year of life . MATERIAL AND METHODS . Aim of this monocentric study is to better define the GI involvement in a cohort of 26 patients affected with Del 22 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 . RESULTS . 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 . CONCLUSIONS . In conclusion , GI involvement is a very common feature in Del 22 patients . A better characterization of GI involvement would be very useful to improve the management of these patients .

Diseases
Validation

Diseases presenting "abdominal pain" symptom

22q11.2 deletion syndrome

adrenal incidentaloma

alpha-thalassemia

benign recurrent intrahepatic cholestasis

carcinoma of the gallbladder

child syndrome

cholangiocarcinoma

congenital diaphragmatic hernia

cushing syndrome

cutaneous mastocytosis

cystinuria

dedifferentiated liposarcoma

erdheim-chester disease

erythropoietic protoporphyria

fabry disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

focal myositis

liposarcoma

lymphangioleiomyomatosis

malignant atrophic papulosis

pleomorphic liposarcoma

primary effusion lymphoma

primary hyperoxaluria type 1

proteus syndrome

scrub typhus

sneddon syndrome

systemic capillary leak syndrome

typhoid

von hippel-lindau disease

well-differentiated liposarcoma

This symptom has already been validated