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Wilson's disease manifesting as refractory rickets.
BMJ Case Rep
January 2025
Neurology, King George's Medical University, Lucknow, Uttar Pradesh, India
Wilson's disease is a metabolic disorder affecting the liver, brain, skin and osteo-muscular organs. Refractory rickets is an unusual phenomenon in Wilson's disease. This 27-year-old man was primarily treated for rickets for 20 years without success and later developed features of tremulousness of limbs and dysphonia when he was evaluated for Wilson's disease.
View Article and Find Full Text PDFSpectrum of Pathogenic Variants of the ATP7B Gene and Genotype-Phenotype Correlation in Eastern Eurasian Patient Cohorts with Wilson's Disease.
Biomedicines
December 2024
School of Medicine and Life Sciences, Far Eastern Federal University, Vladivostok 690922, Russia.
Wilson's disease (WD) (OMIM 277900) or hepatolenticular degeneration is an autosomal recessive disorder caused by impaired copper excretion with subsequent accumulation in the liver, brain, and other tissues of the body. The defects in copper metabolism are based on various pathogenic variants of the ATP7B gene encoding copper-transporting P-type ATPase. The aim of this work is to search for pathogenic variants of the ATP7B gene among Eastern Eurasian patient cohorts and to pick correlations between pathogenic variants, gender, age of onset of the disease, and the course of the disease.
View Article and Find Full Text PDF[Research progresses in gene therapy for hepatolenticular degeneration].
Zhonghua Gan Zang Bing Za Zhi
January 2025
Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei230022, China NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei230032, China Engineering Research Center of Biopreservation and Artificial Organs, Ministry of Education, Hefei230032, China Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei230032, China Anhui Province Key Laboratory of Reproductive Disorders and Obstetrics and Gynecology Diseases, Hefei230032, China Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei230032, China Anhui Provincial Institute of Translational Medicine, Hefei230032, China.
Hepatolenticular degeneration, also known as Wilson's disease, is a type of autosomal recessive genetic disorder of copper metabolism. The causative gene, ATP7B, is located on the long arm of chromosome 13 and encodes a P-type ATPase that is involved in copper transport. Pathogenic mutations in the ATP7B gene sequence lead to the diminished or lost function of the ATP7B protein, resulting in pathological copper deposition in organs such as the liver, brain, kidneys, and cornea.
View Article and Find Full Text PDFPregnancy with Wilson's Disease: A Case Series.
Mymensingh Med J
January 2025
Dr Mousumi Saha, Assistant Professor, Fetomaternal Medicine Subspeciality (FCPS) Course Student, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh; E-mail:
Wilson's disease is an autosomal recessive disorder that affects copper transport due to deficiency of ceruloplasmin and causes deposition of copper mainly in the liver, brain and cornea. It causes hepatic and/or neuropsychiatric manifestations. This copper deposition causes cirrhosis of the liver, encephalopathy and liver failure.
View Article and Find Full Text PDFIron and Copper Liver Concentrations in Wilson Disease.
J Gastrointestin Liver Dis
December 2024
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Background And Aims: Wilson disease (WD) results in the defective incorporation of copper into ceruloplasmin as well as decreased biliary copper excretion. Secondary iron overload has also been associated with WD; however, the prevalence is currently unknown. This study aims to determine the prevalence of potential secondary iron overload in patients suspected to have WD.
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