logo
calendar16 апрел 2025
view2
Asosiy til:Ingliz

UILSON-KONOVALOV KASALLIGINING KLINIK-MOLEKULAR, HAMDA GENETIK DIAGNOSTIKASI

Fan yo'nalishi:
pdf

67ffb04c381d9.pdf

PDF

MAQOLA ANNOTATSIYASI

quote
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

MUALIFLAR

Teglar

# ceruloplasmin# Wilson-Konovalov disease# Wilson’s disease# ATP7B gene# copper metabolism# genetic diagnosis# molecular diagnostics# next-generation sequencing# Kayser-Fleischer ring# hepatic dysfunction

Maqolani baholang

0

0 ta

Maqola idintifikatorlari

Foydalanilgan adabiyotlar

1.Gerner E.A., Nazarov V.D., Fedorova T.F., Lapin S.V., Pavlova T.A., Novikov S.A., Alekseeva T.M.,Emanuel V.L., Panina E.B. Russian Neurological Journal. 2019;(3):10-18.2.Bayazutdinova G.M., Shchagina O.A., Polyakov A.V. Mutationc.3207C>A of the ATP7B gene is the most common cause of hepatolenticulardegeneration in Russia: frequency and cause of distribution. MedicalGenetics // 2018. -Vol. 17. No. 4. -P. 25-30.3.Eremina E.Yu. Wilson-Konovalov disease // Bulletin of modern clinical medicine. -2011. -Vol. 4. No. 1. P. 38-46.3.4.Ryzhkova O. P., Kardymon O. L., Prokhorchuk E. B., et al. Guidelines for interpreting data obtained by massively parallel sequencing methods // Medical Genetics. -2017. -No. 7. -P. 4-17.5.Sokolov A. A., Dembrovsky V. N., Krasilnikova E. Yu. Provision of medical care and drug provision to patients suffering from life-threatening and chronic progressive rare diseases. Wilson's disease (hepatolenticular degeneration) // Problems of standardization of health care. -2015. -Vol. 5. -No. 6. -P.30-366.Abuduxikuer, K. Wilson disease with hepatic presentation in an eight-month-old boy // World J. Gastroenterol. –2015. Vol. 1(29). -P. 81-89.7.Chang I.J., Hahn S.H. The genetics of Wilson disease // Handb ClinNeurol. -2017. –Vol. 142. -P. 19-34.8.Chen C., Shen B., Xiao J.J. et al. Currently Clinical Views on Geneticsof Wilson's Disease // Chin Med J. –2015. –P. 128-13.9.Bandmann, O., Weiss, K. H., & Kaler, S. G. (2015). Wilson’s disease and other neurological copper disorders. The Lancet Neurology, 14(1), 103-113.10.Collet, C., Laplanche, J. L., Page, J., Morel, H., Woimant, F., &Poujois, A. (2018). High-throughput sequencing in Wilson disease: genotype-phenotype correlations and validation of the Leipzig score. Liver International, 38(5), 877-888.11.Członkowska, A., Litwin, T., Dusek, P., Ferenci, P., Lutsenko, S., Medici, V., ... & Schilsky, M. L. (2018). Wilson disease. Nature Reviews Disease Primers, 4(1), 21.12.Dong, Y., Ni, W., Chen, W. J., Wan, B., Zhao, G. X., Shi, Z. Q., ... & He, J. (2016). Spectrum and classification of ATP7B variants in a large cohort of Chinese patients with Wilson’s disease. Liver International, 36(11), 1639-1646.13.Ferenci, P. (2017). Diagnosis of Wilson disease. Handbook of Clinical Neurology, 142, 171-180.14.Gupta, A., Chattopadhyay, I., & Das, S. K. (2018). Molecular pathogenesis of Wilson disease. Journalof Human Genetics, 63(1), 85-90.

public

SLIB.uz — O'zbekiston ilmiy jurnallari va maqolalar yagona tizimda ilmiy nashirlarni bir joyda ko'rish, izlash va ulardan foydalanish imkonini beruvchi zamonaviy platforma.

Ijtimoiy tarmoqlarda
instagramtelegramyoutubefacebook

Bog'lanish uchun

Manzil:Chilonzor tumani Qatortol ko'chasi 60B

Tel:+998(55)511-44-00

Savol-javob va takliflar uchun

© 2026 Barcha huquqlar himoyalangan.