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Journal: University Journal of Medicine and Medical Specialities (Vol.2, No. 7)

Publication Date:

Authors : ;

Page : 225-229

Keywords : :hepatolenticular degeneration; renal insufficiency;

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Wilsons disease also known as hepatolenticular degeneration is one of the commonly inherited metabolic disorder which has been frequently reported in our community. The mutation affects the transport protein which is required for transport of copper into bile and its incorporation into ceruloplasmin. Main sites of involvement are liver and brain, producing liver disease and neuropsychiatric symptoms. They may have renal manifestations like haematuria, proteinuria, acute kidney injury or chronic renal insufficiency. Here we had a 20 years old male who presented with the complaints of cough with expectoration along with swelling of legs and decreased urine output. On examination patient had pallor, bilateral pitting pedal oedema, kayser Fleischer rings. Renal parameters were elevated with hyperkalaemia, Along with proteinuria. Ultrasound abdomen showed chronic liver disease with ascites, bilateral chronic kidney disease. Serum copper and ceruloplasmin levels were within normal range. 24 hours urinary copper excretion is elevated along with serum non ceruloplasmin copper. The patient was diagnosed to have chronic liver disease with portal hypertension, presenting with features of renal insufficiency due to Wilsons disease along with pulmonary tuberculosis. This case is presented because our patient had no past history of Hepatic or Neurological manifestation of Wilsons disease presenting with renal insufficiency. Renal insufficiency as initial symptom of presentation in Wilsons disease is a relatively rare presentation.

Last modified: 2017-01-11 19:59:34