Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017160 (gastroenteritis)
 11,398 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a 4-month-old girl with Estren-Dameshek variant of Fanconi's anemia (FA) presenting with a pancytopenia secondary to extranodal bone marrow malignant lymphoma as the first hematologic manifestation of the syndrome. Although she was phenotypically normal, her cultured lymphocytes showed an increased spontaneous chromosome breakage, which was enhanced by diepoxybutane (DEB). Cytogenetic studies showed that 7 of her 12 relatives, including both parents, were heterozygote carriers of the FA gene. This confirms the diagnosis of FA of the Estren-Dameshek variant. A complete hematologic remission was attained within 28 days, and she remained in continuous bone marrow remission till the age of 14.5 months, when she developed acute gastroenteritis and died. No unusual sensitivity to chemotherapy was experienced, though leukopenia and recurrent infections proved troublesome. FA has an incidence many times higher in the Orange Free State region of South Africa than reported elsewhere in the world.
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PMID:Pancytopenia secondary to primary malignant lymphoma of bone marrow as the first hematologic manifestation of the Estren-Dameshek variant of Fanconi's anemia. 343 83

Nontyphoidal Salmonella is a common cause of bacterial gastroenteritis, occasionally causing bacteremia. We herein report the case of an 80-year-old man who presented with bacteremia and pre-renal acute kidney injury (AKI) secondary to diarrhea caused by nontyphoidal Salmonella. Despite AKI improvement on fluid administration, some serological abnormalities, such as hypokalemia, hypophosphatemia, and hypouricemia, and abnormal urinary findings emerged, including renal glycosuria and aminoaciduria. Fractional excretion of phosphate and uric acid was increased, suggesting that the serological and urinary abnormalities may have arisen from Fanconi syndrome. Physicians should consider acquired Fanconi syndrome when patients with nontyphoidal Salmonella bacteremia present with electrolyte disorders.
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PMID:Acquired Fanconi Syndrome in a Patient with Nontyphoidal Salmonella Bacteremia. 3299 44