[PAGID] AT patient with enteritis

[Andrew Zeft]

Dear Immunology Community,

I have a patient with ataxia telangiectasia who has developed an autoimmune enteropathy with upper GI endoscopy identifying moderate villus atrophy with crypt hyperplasia and increased intraepithelial lymphocytes.
His massive ascites has improved with diuretic therapy, but he has become quite malnourished with pronounced hypoalbuminemia. He currently receives NG feeds at night to suppliment his gluton free diet.

I am considering treatment with Tacrolimus.

Do people have suggestions to support this or offer other suggestions? He was treated with Rituximab 5/09 for his interstitial pneumonitis (recent abs CD19 <1) and remains on high dose IVIG monthly. Also his loose stools begain while on prednisone.

Further description of case below:

5 yo male patient with Ataxia Telangiectasia who presented to us at 3 years of age with unsteady gait, ocular and auricular telangiectasias, leukopenia, and pronounced hepatosplenomegaly. Further workup revealed elevated IgM (1160) and absent IgG and IgA. Diptheria/tetanus administration stimulated no specific antibody production. ATM protein was not detected by western blot. ATM gene sequencing revealed 2 mutations (Nt 1446 del A, Nt 7638 del TAG AATTTC). At 4 years of age he developed a chronic cough and fever. Workup revealed an interstitial pneumonitis. Hypoxia only partially improved with high dose steroids, so the patient's IVIG dose was increased to 2 g/kg/month and dosed with Rituximab (750 mg/m2 x 4). His steroids were weaned and since he has remained with adequate saturations. On steroids he developed severe diarrhea and ascites with hypoalbuminemia. Upper GI endoscopy identified moderate villus atrophy with crypt hyperplasia and increased intraepithelial lymphocytes. A liver biopsy was also performed which revealed steatosis with bridging fibrosis and chronic triaditis, with no regenerative nodules to confirm cirrhosis. Bone marrow, lymph node, intestinal, and liver biopsies have not identified an oncologic or lymphoproliferative process. Maternal chimerism studies and peripheral T & B cell clonality studies have been negative. Ongoing infectious disease work up has been negative.

Thank you for your input.

Andy

Andrew Zeft, MD
Assistant Professor of Pediatrics
Division of Immunology and Rheumatology
University of Utah


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