Classification and differential diagnosis of Wilson's disease
| Autor: | Wieland Hermann |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty Movement disorders MEDNIK syndrome business.industry Occipital horn syndrome General Medicine Disease Review Article Indian childhood cirrhosis medicine.disease Wilson's disease 03 medical and health sciences 030104 developmental biology 0302 clinical medicine medicine Menkes disease Differential diagnosis medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Annals of translational medicine. 7(Suppl 2) |
| ISSN: | 2305-5839 |
| Popis: | Wilson’s disease is characterized by hepatic and extrapyramidal movement disorders (EPS) with variable manifestation primarily between age 5 and 45. This variability often makes an early diagnosis difficult. A classification defines different clinical variants of Wilson’s disease, which enables classifying the current clinical findings and making an early tentative diagnosis. Until the unequivocal proof or an autosomal recessive disorder of the hepatic copper transporter ATP7B has been ruled out, differential diagnoses have to be examined. Laboratory-chemical parameters of copper metabolism can both be deviations from the norm not related to the disease as well as other copper metabolism disorders besides Wilson’s disease. In addition to known diseases such as Menkes disease, occipital horn syndrome (OHS), Indian childhood cirrhosis (ICC) and ceruloplasmin deficiency, recently discovered disorders are taken into account. These include MEDNIK syndrome, Huppke-Brendel syndrome and CCS chaperone deficiency. Another main focus is on differential diagnoses of childhood icterus correlated with age and anaemia as well as disorders of the extrapyramidal motor system. The Kayser-Fleischer ring (KFR) is qualified as classical ophthalmologic manifestation. The recently described manganese storage disease presents another rare metabolic disorder with symptoms similar to Wilson’s disease. As this overview shows, Wilson’s disease fits into a broad spectrum of internal and neurological disease patterns with icterus, anaemia and EPS. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|