Wilson's disease, or hepatolenticular degeneration, is a rare genetic disorder of copper metabolism. The disease leads to the accumulation of copper in the brain, liver, eyes and kidney. The dominant triad of the syndrome is nodular liver cirrhosis, Kayser-Fleischer ring in the corneas, lesions of the cortex and basal ganglia. In addition, a defect in proximal tubule reabsorption has been noted. The syndrome has been named after Samuel Alexander Kinnier Wilson (1878-1937). It was initially considered a purely brain disease, described by Frerichs in 1861. In 1883, Carl Westphal in Germany described two cases of what he termed "pseudosclerosis". These and other reports led Wilson to propose the existence of the new clinical entity with degeneration of the brain lenticular nucleus and of the liver in 1912. "Pseudosclerosis" and "Wilson's disease" were later found to be the same disease. In 1913, Rumpel introduced the study of copper in the liver in a case of pseudosclerosis. The renal dysfunction included the discovery of aminoaciduria, glycosuria, increased urate excretion, reduced renal plasma flow (RPF) and glomerular filtration rate (GFR), and specific histological lesions. A complete physiological study of the kidney was then presented in 1957 by Bearn and Gutman, who confirmed the reduced RPF and reduced GFR, and reduced secretory and reabsorptive tubular function. The ocular findings in Wilson's disease were identified in 1902 by Bernhard Kayser and Bruno Fleischer in Germany, who first described the typical ring in the cornea that still brings their names. In conclusion, the history of renal and eye involvement in Wilson's disease appears as another case of organ blindness; that is, attention to the predominant symptom leads to neglecting the involvement of other organs in multisystemic diseases. The sequence of discoveries and hypotheses reflects the technical advancement of each specific historical period.

Another case of organ blindness in the history of combined eye-kidney disorders Wilson's disease

Viggiano, D;Simonelli, F;
2020

Abstract

Wilson's disease, or hepatolenticular degeneration, is a rare genetic disorder of copper metabolism. The disease leads to the accumulation of copper in the brain, liver, eyes and kidney. The dominant triad of the syndrome is nodular liver cirrhosis, Kayser-Fleischer ring in the corneas, lesions of the cortex and basal ganglia. In addition, a defect in proximal tubule reabsorption has been noted. The syndrome has been named after Samuel Alexander Kinnier Wilson (1878-1937). It was initially considered a purely brain disease, described by Frerichs in 1861. In 1883, Carl Westphal in Germany described two cases of what he termed "pseudosclerosis". These and other reports led Wilson to propose the existence of the new clinical entity with degeneration of the brain lenticular nucleus and of the liver in 1912. "Pseudosclerosis" and "Wilson's disease" were later found to be the same disease. In 1913, Rumpel introduced the study of copper in the liver in a case of pseudosclerosis. The renal dysfunction included the discovery of aminoaciduria, glycosuria, increased urate excretion, reduced renal plasma flow (RPF) and glomerular filtration rate (GFR), and specific histological lesions. A complete physiological study of the kidney was then presented in 1957 by Bearn and Gutman, who confirmed the reduced RPF and reduced GFR, and reduced secretory and reabsorptive tubular function. The ocular findings in Wilson's disease were identified in 1902 by Bernhard Kayser and Bruno Fleischer in Germany, who first described the typical ring in the cornea that still brings their names. In conclusion, the history of renal and eye involvement in Wilson's disease appears as another case of organ blindness; that is, attention to the predominant symptom leads to neglecting the involvement of other organs in multisystemic diseases. The sequence of discoveries and hypotheses reflects the technical advancement of each specific historical period.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11695/95189
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