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@proceedings{1392306,
author = {Procházková, Dagmar and Pouchlá, Slávka and Dastych, Milan and Konečná, Petra and Fajkusová, Lenka},
booktitle = {ICIEM 2017, Rio de Janeiro, Brasil, Journal of Inborn Errors of Metabolism and Screening, 2017, vol.5,s.379},
doi = {http://dx.doi.org/10.1177/2326409817722292},
keywords = {Wilson disease children},
language = {eng},
title = {Novel mutations of the ATP7B gene in Czech families with Wilsons disease},
url = {http://journals.sagepub.com/home/iem},
year = {2017}
}
TY - CONF
ID - 1392306
AU - Procházková, Dagmar - Pouchlá, Slávka - Dastych, Milan - Konečná, Petra - Fajkusová, Lenka
PY - 2017
TI - Novel mutations of the ATP7B gene in Czech families with Wilsons disease
KW - Wilson disease children
UR - http://journals.sagepub.com/home/iem
N2 - Objective of study: Wilson´s disease (WD, MIM #277900) is an autosomal recessive genetic disorder of copper metabolism, caused by mutations in the ATP7B gene (13q14.3). Defects of ATP7B will reduce the blood ceruloplasmin and affect hepatocytes; and also many other organs, including the brain, eyes, and kidney, will be involved. The aim of our study was to analyse clinical presentations and diagnostic tests of pediatric patients with WD. Methods: Retrospectively we analyzed the medical history of 35 patients (aged 17 months to 19 years) with confirmed diagnosis of WD treated at our institute from 2002 till March 2017. Results: The mean onset of symptoms was 9.9 years of age. Of the patients 30 suffered from the hepatic form of the disorder (more frequently increased transaminases) and 5 from the mixed form (hepatic and neurologic or psychiatric form); 3 girls underwent orthotopic liver transplantation (OLT) due to acute failure of the liver. No child had the Kayser-Fleischer ring (copper deposits in Descemet´s membrane). Three carriers of the (p.H1069Q) showed neurological symptoms: tremor, dysarthria, hypomimia, disorder of movement coordination, dystonia and the pseudo-bulbar syndrome. In early adulthood one proband, i.e. homozygote p.(H1069Q), began to suffer from bipolar affective disorder. Another proband with genotype (p.H1069Q)/(p.W779X) suffers from an anxiety disorder which requires psychiatric treatment. In 77.5 % cases the ceruloplasmin serum concentrations were ≤0.2g/l [median 0.16 (0.02;0.28)]. In 72.5% patients basal urinary copper excretion was ≥1.6µmol/24 hours [median 2.3(0.82;15.4)]. Mutation analysis was performed in all cases. The detection mutation ratio was 95.7%. We identified 2 novel ATP7B gene mutations [c.2732C>T;(p.A911V); c.2324C>T;(p.A775V)] and 18 known mutations. The most common mutation was c.3207C>A;(p.H1069Q) (53.7%). Conclusion: Conventional diagnostic criteria established for adults are commonly agreed for children but may not always be appropriate in very young age. Genetic testing is the most accurate and effective diagnostic method for early diagnosis.
ER -
PROCHÁZKOVÁ, Dagmar, Slávka POUCHLÁ, Milan DASTYCH, Petra KONEČNÁ a Lenka FAJKUSOVÁ. Novel mutations of the ATP7B gene in Czech families with Wilsons disease. In \textit{ICIEM 2017, Rio de Janeiro, Brasil, Journal of Inborn Errors of Metabolism and Screening, 2017, vol.5,s.379}. 2017. ISSN~2326-4098. Dostupné z: https://dx.doi.org/10.1177/2326409817722292.
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