Year: 2024
Type: article
Study design: Case Report
Abstract: Wilson’s disease is a rare autosomal recessive disorder with mutation of ATP 7B on chromosome 13q14 which leads to impaired biliary excretion and ceruloplasmin incorporation causing copper accumulation mainly in the liver and brain. This accumulation results in liver cirrhosis and nervous system manifestations such as neuropsychiatric symptoms, movement disorders and ataxia. Untreated Wilson’s disease usually causes subfertility and in cases where pregnancy does occur, it often results in spontaneous miscarriage. However, therapeutic evolution in the past decades has resulted in multiple successful pregnancy outcomes in patients with Wilson’s disease. We report such a case of successful pregnancy outcome in a women with Wilson’s disease.
Authors: Sonali Choudhary, Rachna Chaudhary
Institution: Lala Lajpat Rai Memorial Medical College
Language: English
Topic: Trace Elements in Health
Subfield: Nutrition and Dietetics
Field: Nursing
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4403317171