Feoktistova VL, Ruenes DC, García BEF, Roblejo BH, Morales PE, Clark FY

Language: Spanish
References: 18
Page: 171-176
PDF size: 251.55 Kb.

ABSTRACT

Foundation: Wilson’s disease is a global health problem. Clinical manifestations are quite variable, which makes the diagnosis difficult. The presence of factor coagulation disorders associated with it is not common, but cases have been reported in literature.
Objective: to identify coagulation disorders and their molecular cause in Cuban patients with a clinical diagnosis of Wilson’s disease.
Methods: Descriptive study of 50 Cuban patients with clinical diagnosis of Wilson’s disease, conducted at the National Center for Medical Genetics, Havana. DNA was extracted from patients’ blood by saline precipitation. Exon mutations: 2, 3, 6, 8, 10 and 14 of the atp7b gene were searched using SSCP techniques, enzymatic digestion and sequencing.
Results: Only one patient was identified with coagulation disorder (mutation p.L708P), which represented 2% of the total. The analysis of this mutation showed a score of 0.74, which meant that it could cause damage to the ATP7B protein.
Conclusion: The frequency of occurrence of factor coagulation disorders in Cuban patients with a clinical diagnosis of Wilson’s disease was low compared to that reported by other studies. However, it must be considered as a real probability, and perform the necessary tests for confirmation.

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