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Acute Diagnosis of Wilson’s Disease in a Teenage Patient
oleh: Ryan McCarthy
| Format: | Article |
|---|---|
| Diterbitkan: | Marshall University 2019-10-01 |
Deskripsi
Wilson’s Disease, a rare autosomal recessive genetic disease, is caused by a mutation in the ATP7B enzyme gene. Without this enzyme, copper builds up in the brain, liver, and cornea causing a multitude of symptoms. It is important to consider Wilson’s disease because the prognosis is dependent on timely diagnosis. This is an interesting case of a 19-year-old male who presented with suicidal thoughts and rapid weight loss. After many months and an extensive work-up, Wilson’s Disease was diagnosed. Due to his rapid decline, he was transferred to a larger university healthcare center where he is currently enrolled in clinical trial for WTX101.