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Annual Meeting of the European Society of Pediatric Gastroenterology and Nutrition

80 ENDEMIC TYROLEAN INFANTILE CIRRHOSIS

Müller, Th.; Feichtinger, H.; Berger, H.; Müller, W.

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Journal of Pediatric Gastroenterology & Nutrition: May 1996 - Volume 22 - Issue 4 - p 429
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A series of fatal liver cirrhosis affecting infants and young children — a rare disorder in the West — occured in a circumscribed rural area in the Austrian province of Tyrol. A retrospective analysis of the epidemiology, an evaluation of its clinicopathologic characteristics, a definition of the pedigrees of affected families, and an investigation of nutritional habits was performed to uncover possible aetiologic factors of this disease.

Finally, 138 cases occuring between 1900 and 1974 fitted the case definiton, a considerable proportion being restricted to a few consangineous families. The frequency of the disease peaked between 1930 - 1960; since 1974 it has disappeared completely. Clinicopathologic features were indistinguishable from those reported for Indian childhood cirrhosis (ICC) and idiopathic copper toxicosis (ICT), respectively. Pedigree analysis revealed an autosomal recessive trait of inheritance. Furthermore, experimental preparation of feeding milk in originally used untinned copper and brass vessels pointed to an extremely high dietary copper uptake reflected in copper concentrations of up to 62mg/l as determined by atomic spectrophotometry. Ethnographic studies showed that replacement of traditional copper utensils by industrial vessels in the late 1960ies paralleled the eradication of the disease. Our data indicate that Endemic Tyrolean Infantile Cirrhosis and the analogous non-Indian Childhood Cirrhosis termed ICT is an ecogenetic disorder requiring both genetic and environmental factors for disease manifestation.

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Munich, June 5-8, 1996

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