Cases reported "Fanconi Syndrome"

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1/5. An infant with severe combined immunodeficiency syndrome, an alpha-thalassemia trait and renal fanconi syndrome.

    We describe an infant with severe combined immunodeficiency syndrome and an alpha-thalassemia trait who developed a renal fanconi syndrome after his first stem cell transplantation. This syndrome consists of a generalized failure of proximal tubular reabsorption, which leads to a large number of metabolic disturbances. The etiology varies from inherited causes, including an idiopathic form, to acquired causes such as intoxications, immunological disorders and hemoglobinopathies. In this case report we discuss possible explanations of the fanconi syndrome in our patient.
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ranking = 1
keywords = intoxication
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2/5. Fanconi's syndrome, acute renal failure, and tonsil ulcerations after colloidal bismuth subcitrate intoxication.

    A 22-year-old woman ingested 5.4 g of colloidal bismuth subcitrate (CBS) in a suicide attempt. After ingestion, she presented with Fanconi's syndrome and acute renal failure to our unit. On the third day after ingestion, she was anuric. Ulcerations of both tonsils were observed 8 days after intoxication. sodium-2,3-dimercapto-1-propanesulfonate (DMPS) is shown to be an effective chelating agent of heavy metal intoxications, but it has only a small effect on elimination of bismuth salts in patients with renal insufficiency without hemodialysis. In our case, we initiated hemodialysis and intravenous treatment with DMPS 60 hours after intoxication. By repeated measurements of bismuth concentrations in serum and dialyzed fluid, we showed its successful elimination. serum bismuth level decreased from 640 microg/L to 15 microg/L within 6 days. With elimination of bismuth, renal function improved, and tonsil ulcerations healed. Hemodialysis was discontinued on day 14. Follow-up examination 6 weeks later showed normal renal function. Clinicians should be aware that acute renal failure and tonsil ulcerations can occur after CBS intoxication. Generally, acute renal failure caused by CBS intoxication is reversible. Treatment with the chelating agent DMPS in combination with hemodialysis is highly effective in reducing the serum bismuth level in patients with acute renal failure.
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ranking = 9
keywords = intoxication
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3/5. paraquat-induced fanconi syndrome.

    The ingestion of paraquat, a non-selective herbicide, can be fatal in humans. paraquat is toxic to multiple organs, including the kidney, heart, gastrointestinal tract and central nervous system. Although paraquat has been established as one cause of acute tubular necrosis, fanconi syndrome presenting as severe hypophosphataemia after paraquat intoxication has not been reported. Here, we report the case of a 44-year-old Korean woman who presented with generalized proximal tubular dysfunction including aminoaciduria, phosphaturia and glycosuria after paraquat intoxication. We found that severe hypophosphataemia induces deep drowsiness. Renal biopsy findings indicated the presence of acute tubular necrosis that may be reversible.
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ranking = 2
keywords = intoxication
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4/5. Fanconi's syndrome associated with carburetor fluid intoxication.

    A patient who ingested carburetor fluid developed methanol intoxication followed by hypouricemia, hypophosphatemia, glycosuria, and hyperchloremic metabolic acidosis. Renal clearances of phosphate, uric acid, glucose, and bicarbonate were found to be elevated indicating the presence of Fanconi's syndrome. The authors postulate that the Fanconi's syndrome observed in our patient was the result of the organic solvents present in the mixture.
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ranking = 5
keywords = intoxication
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5/5. beta2 microglobulinuria in a patient with nephrotoxicity secondary to mercuric chloride ingestion.

    A case of mercuric chloride intoxication is reported in which protein excretion was measured. Urinary albumin and low molecular weight proteins, including beta2 microglobulin, were greatly elevated following ingestion, reaching maximal values on the second day. The increased excretion of both albumin and beta2 microglobulin indicated the presence of both tubular and glomerular lesions. Data obtained on this patient suggest that the determination of beta2 microglobulin may be useful guide for the evaluation of renal tubular function.
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ranking = 1
keywords = intoxication
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