Mutation analysis of ATP7B gene in Czech families with Wilson´s
disease.

a 2019

Mutation analysis of ATP7B gene in Czech families with Wilson´s disease.

PROCHÁZKOVÁ, Dagmar, Slávka POUCHLÁ, Milan DASTYCH, Petra KONEČNÁ, Kateřina SLABÁ et. al.

Základní údaje

Originální název

Mutation analysis of ATP7B gene in Czech families with Wilson´s disease.

Autoři

PROCHÁZKOVÁ, Dagmar, Slávka POUCHLÁ, Milan DASTYCH, Petra KONEČNÁ, Kateřina SLABÁ a Lenka FAJKUSOVÁ

Vydání

SSIEM, Rotterdam, Holandsko, 2.-6.9.2019. in JIMD,vol.42,suppl.1,p.283-284, 2019

Další údaje

Jazyk

angličtina

Typ výsledku

Konferenční abstrakt

Obor

30209 Paediatrics

Stát vydavatele

Nizozemské království

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 4.036

Organizační jednotka

Lékařská fakulta

ISSN

DOI

http://dx.doi.org/10.1002/jimd.12153

Klíčová slova anglicky

Wilson disease children

Změněno: 17. 9. 2019 11:56, doc. MUDr. Dagmar Procházková, Ph.D.

Anotace

V originále

BACKGROUND:Wilson´s disease (WD, MIM #277900) is an autosomal recessive genetic disorder of copper metabolism, caused by mutations in the ATP7B gene (13q14.3). 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 2019. 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); 4 girls underwent orthotopic liver transplantation (OLT) due to acute failure of the liver. 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%). DISCUSSION:Conventional diagnostic criteria established for adults are commonly agreed for children but may not always be appropriate in the very young. Genetic testing is the most accurate and effective diagnostic method for early diagnosis.

Citovat

PROCHÁZKOVÁ, Dagmar, Slávka POUCHLÁ, Milan DASTYCH, Petra KONEČNÁ, Kateřina SLABÁ a Lenka FAJKUSOVÁ. Mutation analysis of ATP7B gene in Czech families with Wilson´s disease. In SSIEM, Rotterdam, Holandsko, 2.-6.9.2019. in JIMD,vol.42,suppl.1,p.283-284. 2019. ISSN 1573-2665. Dostupné z: https://dx.doi.org/10.1002/jimd.12153.

@proceedings{1548779,
   author = {Procházková, Dagmar and Pouchlá, Slávka and Dastych, Milan and Konečná, Petra and Slabá, Kateřina and Fajkusová, Lenka},
   booktitle = {SSIEM, Rotterdam, Holandsko, 2.-6.9.2019. in JIMD,vol.42,suppl.1,p.283-284},
   doi = {http://dx.doi.org/10.1002/jimd.12153},
   keywords = {Wilson disease children},
   language = {eng},
   title = {Mutation analysis of ATP7B gene in Czech families with Wilson´s disease.},
   url = {http://www.jimd.org},
   year = {2019}
}

TY  - CONF
ID  - 1548779
AU  - Procházková, Dagmar - Pouchlá, Slávka - Dastych, Milan - Konečná, Petra - Slabá, Kateřina - Fajkusová, Lenka
PY  - 2019
TI  - Mutation analysis of ATP7B gene in Czech families with Wilson´s disease.
KW  - Wilson disease children
UR  - http://www.jimd.org
N2  - BACKGROUND:Wilson´s disease (WD, MIM #277900) is an autosomal recessive genetic disorder of copper metabolism, caused by mutations in the ATP7B gene (13q14.3). 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 2019. 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); 4 girls underwent orthotopic liver transplantation (OLT) due to acute failure of the liver. 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%). DISCUSSION:Conventional diagnostic criteria established for adults are commonly agreed for children but may not always be appropriate in the very young. Genetic testing is the most accurate and effective diagnostic method for early diagnosis.
ER  -

PROCHÁZKOVÁ, Dagmar, Slávka POUCHLÁ, Milan DASTYCH, Petra KONEČNÁ, Kateřina SLABÁ a Lenka FAJKUSOVÁ. Mutation analysis of ATP7B gene in Czech families with Wilson´s disease. In \textit{SSIEM, Rotterdam, Holandsko, 2.-6.9.2019. in JIMD,vol.42,suppl.1,p.283-284}. 2019. ISSN~1573-2665. Dostupné z: https://dx.doi.org/10.1002/jimd.12153.

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