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Archives of Otolaryngology - Head and Neck Surgery, 1970
The Fanconi anemia syndrome consists of multiple congenital anomalies and aplastic anemia. Diagnosis is made clinically and confirmed by chromosome analysis. This case represents an unusual occurrence in a 21-year-old woman with congenital middle ear disease.
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The Fanconi anemia syndrome consists of multiple congenital anomalies and aplastic anemia. Diagnosis is made clinically and confirmed by chromosome analysis. This case represents an unusual occurrence in a 21-year-old woman with congenital middle ear disease.
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Pearson's Syndrome Presenting with Fanconi Syndrome
Ultrastructural Pathology, 1996A case of Pearson's marrow-pancreas syndrome is presented. The dominant clinical feature was a generalized disorder of proximal tubule function with severe renal magnesium wasting. Renal and muscle biopsies were performed and showed bizarre giant mitochondria.
Rodney D. Gilbert +3 more
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Paraquat‐induced Fanconi syndrome
Nephrology, 2005SUMMARY: 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 ...
Hyo W, Gil +3 more
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Kidney Transplantation in Fanconi Syndrome
New England Journal of Medicine, 1972KIDNEY transplantation in children and adolescents with end-stage renal disease will provide information regarding the possibility of recurrence in the transplanted kidney of diseases unique to chi...
W A, Briggs +3 more
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Spontaneous Fanconi syndrome in the dog
Metabolism, 1978Three dogs with spontaneous renal tubular defects similar to idiopathic Fanconi syndrome are characterized. Renal clearance studies revealed a fractional reabsorption of glucose ranging from 31% to 82%. Abnormal glucose thulium values were present in all dogs.
K C, Bovée +3 more
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The Cellular Basis of Fanconi Syndrome
Hospital Practice, 1993In this syndrome, all solutes are prevented from crossing the apical membrane of the proximal renal tubule cell; hence, investigations have focused on generalized transport dysfunction, namely intracellular ATP activity. Experiments suggest that intracellular adenine nucleotide degradation secondary to phosphate depletion causes a decline in ATP.
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BCS1L mutations produce Fanconi syndrome with developmental disability
Journal of Human Genetics, 2021Hiroyuki Mishima +2 more
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