Primary biliary cirrhosis in a patient with Turner syndrome, Pulsus Group Inc
CANADIAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY
The Canadian Association of Gastroenterology (CAG) Canadian Association for the Study of the Liver (CASL)

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Brief Communication October 2005, Volume 19 Issue 10: 631-633
 

Primary biliary cirrhosis in a patient with Turner syndrome

P Milkiewicz | J Heathcote

An increased prevalence of X chromosome monosomy has recently been demonstrated in patients with primary biliary cirrhosis (PBC). Chronic cholestasis of unknown etiology is a common clinical feature in patients with Turner syndrome who reach the fourth and fifth decades of life. A 37-year-old patient with Turner syndrome who presented with clinical and biochemical features of chronic cholestasis is described. Subsequent investigations confirmed the diagnosis of PBC. The patient did not respond to the medical treatment and was referred for liver transplant assessment. The present case may support the importance of X chromosome genes in the development of genetic predisposition to PBC, and emphasizes the necessity for a systematic study of the prevalence of PBC in patients with Turner syndrome.

Primary biliary cirrhosis | Turner syndrome
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