Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Soon after the diagnosis of pellagra in a 20-year-old patient with beta thalassemia, bilateral intumescent cataracts rapidly developed. We believe the patient's crystalline lenses were at an increased oxidative state due to iron overload from the thalassemia. Depletion of the lens epithelial cells of an important antioxidative agent (glutathione) as a result of niacin (vitamin B3) deficiency due to pellagra reduced the antioxidative capacity of the lenses. The oxidative damage led to rapid development of cataracts.
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PMID:Rapidly progressing bilateral cataracts in a patient with beta thalassemia and pellagra. 1772 90

Pellagra usually results from niacin deficiency and presents with the classic triad of dermatitis, diarrhea, and dementia. It is most commonly associated with malnutrition and poverty. We report a case of pellagra in a hemodialysis (HD) patient with breast neoplasia, aged 68-years, female, on HD unit for seven years. Her original nephropathy was indeterminate. The patient was followed up for homozygous beta-thalassemia and breast neoplasia with hepatic metastases on chemotherapy. The body mass index of the patient was 18.5 kg/m2. Physical examination showed a thickening of the epidermis with a scaly surface, pigmented, and atrophied areas. We noted neuropsychiatric signs (apathy, irritability, anorexia, and depression) and digestive symptomatology (diarrhea). The laboratory tests revealed hypoproteinemia at 55 g/L, hypoalbuminemia at 21 g/L, and hypocholesterolemia at 0.8 g/L. The diagnosis of pellagra disease was made. Vitamin and protein supplementation was initiated, but the patient committed suicide by puncture of her arteriovenous fistula, causing hemorrhagic shock. Pellagra is usually reported to be associated with malnutrition, chronic alcoholism, and some chemotherapeutic agents. In our patient, pellagra was caused by malnutrition and co-morbidities. Pellagra disease requires multidisciplinary care and can be frequently seen in HD patients due to the associated malnutrition.
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PMID:Pellagra Disease in a Hemodialysis Patient. 3280 Dec 52