Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary immunodeficiency is a disease characterized by reduced levels of serum immunoglobulins and multiple clinical manifestations. Patients with primary immunodeficiency frequently present with gastrointestinal symptoms, such as diarrhea, malabsorption and weight loss. The mainstay of treatment is replacement therapy with intravenous immunoglobulin (IVIG). In the current study, we report the case of a 23-year-old man with symptoms of chronic diarrhea, malabsorption and weight loss that had been apparent for two years. Subsequent to being diagnosed with possible primary immunodeficiency, the patient was treated with 30 mg/day oral prednisone for one month. The prednisone was then tapered weekly by 5 mg until withdrawal. Three months later, the patient's clinical symptoms disappeared and his quality of life improved. During the subsequent nine months follow-up, the patient was able to work without suffering any effects from his illness. The body weight of the patient increased and plasma albumin levels were normal. In conclusion, this study describes the case of a patient with primary immunodeficiency-related gastrointestinal symptoms who responded well to oral prednisone treatment.
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PMID:Possible primary immunodeficiency presenting with gastrointestinal symptoms: Case report and minireview. 2413 37