Naslov
Wilson’s Disease: Importance of Early Recognition and Genetic Testing of Family Members

Autori
Telarović, Srđana ; Telarović, Irma ; Starešina Ivičak, Kristina

Izvornik
Neurologia Croatica (0353-8842) 66 (2017), 1-4; 11-15

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Wilson's disease ; copper ; genetic testing

Sažetak
Objectives: Wilson’s disease (WD) is a rare autosomal recessive hereditary disorder of copper metabolism with an effective treatment available if diagnosed in the early stages, preferably before symptoms show. However, due to sometimes unspecific signs and symptoms, diagnosis is only possible with a high index of clinical suspicion. Therefore, for early recognition of asymptomatic patients, genetic testing of family members is extremely important. In addition, the aim of this article is to emphasize the role and importance of multidisciplinary approach in the diagnosis and treatment of WD. Case description and results: We present a patient with WD that was accidentally detected after routine ophthalmologic examination following head injury. Owing to efforts invested by different members of our multidisciplinary team for WD, a genetic mutation was determined, pathologic parameters of copper metabolism were examined and appropriate therapy was introduced. Genetic testing was also carried out in the patient’s daughter, his sister and her son. The patient’s 5-year-old nephew was found to be a homozygote for the mutation. He was referred to pediatric hepatologist. Conclusion: The nephew was the youngest asymptomatic person diagnosed with WD from establishment of our multidisciplinary team. This dramatically improved the outcome of this boy and is certainly going to increase his overall quality of life.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA