Wilson-Konovalov disease, also known as Wilson's disease, is a rare autosomal recessive disorder caused by mutations in the ATP7B gene, leading to copper accumulation in the liver, brain, and other organs. This article explores the clinical and molecular genetic diagnostics of Wilson-Konovalov disease, emphasizing the importance of early detection and genetic testing. Clinical diagnosis is based on characteristic symptoms such as hepatic dysfunction, neurological impairments, and Kayser-Fleischer rings, along with biochemical markers includingserum ceruloplasmin and urinary copper excretion. Molecular genetic testing, particularly sequencing of the ATP7B gene, plays a crucial role in confirming the diagnosis, identifying carriers, and facilitating genetic counseling. Advances in next-generation sequencing (NGS) and other molecular techniques have improved diagnostic accuracy, enabling early intervention and personalized treatment strategies. A comprehensive approach combining clinical, biochemical, and genetic analyses is essential for effective diagnosis and management of Wilson-Konovalov disease
Wilson-Konovalov disease, also known as Wilson's disease, is a rare autosomal recessive disorder caused by mutations in the ATP7B gene, leading to copper accumulation in the liver, brain, and other organs. This article explores the clinical and molecular genetic diagnostics of Wilson-Konovalov disease, emphasizing the importance of early detection and genetic testing. Clinical diagnosis is based on characteristic symptoms such as hepatic dysfunction, neurological impairments, and Kayser-Fleischer rings, along with biochemical markers includingserum ceruloplasmin and urinary copper excretion. Molecular genetic testing, particularly sequencing of the ATP7B gene, plays a crucial role in confirming the diagnosis, identifying carriers, and facilitating genetic counseling. Advances in next-generation sequencing (NGS) and other molecular techniques have improved diagnostic accuracy, enabling early intervention and personalized treatment strategies. A comprehensive approach combining clinical, biochemical, and genetic analyses is essential for effective diagnosis and management of Wilson-Konovalov disease
| № | Имя автора | Должность | Наименование организации |
|---|---|---|---|
| 1 | Bosimov M.. | ! | Tashkent Pediatric Medical Institute, Uzbekistan |
| 2 | Boboniyazov K.. | ! | Tashkent Pediatric Medical Institute |
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