Screening of Wilson's disease in a psychiatric population: difficulties and pitfalls. A preliminary study

被引：17

作者：

Demily, Caroline ^{[1
,2
,3
,5
]}

Parant, Francois

Cheillan, David ^{[4
]}

Broussolle, Emmanuel ^{[5
,6
,7
,8
]}

Pavec, Alice ^{[5
,9
]}

Guillaud, Olivier ^{[5
,10
]}

Restier, Lioara ^{[5
,11
]}

Lachaux, Alain ^{[5
,11
]}

Bost, Muriel ^{[4
,5
,12
]}

机构：

[1] Hop Vinatier, Pole Ouest, Ctr Detect & Management Psychiat Disorders Genet, GenoPsy, 95 Bld Pinel, F-69677 Bron, France

[2] CNRS, UMR 5229, 95 Bld Pinel, F-69677 Bron, France

[3] Lyon Univ, 95 Bld Pinel, F-69677 Bron, France

[4] Hosp Civils Lyon, Ctr Biol Est, Lab Inherited Metab Dis, Bron, France

[5] Hosp Civils Lyon, Hop Femme Mere Enfant, Natl Reference Ctr Wilsons Dis, Bron, France

[6] Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Cognit Neurosci Ctr, Neurol Unit C, Lyon, France

[7] Claude Bernard Lyon 1 Univ, Bron, France

[8] CNRS UMR 5229, Bron, France

[9] Hop St Jean De Dieu, Lyon, France

[10] Hosp Civils Lyon, Hop Edouard Herriot, Hepato Gastroenterol Dept, Lyon, France

[11] Hosp Civils Lyon, Hop Femme Mere Enfant, Gastroenterol Hepatol & Pediat Nutr Dept, Bron, France

[12] Hosp Civils Lyon, Hop Edouard Herriot, Pharmacotoxicol Biochem & Mol Biol Unit, Lyon, France

来源：

ANNALS OF GENERAL PSYCHIATRY | 2017年 / 16卷

关键词：

Serum copper; Ceruloplasmin; ATP7B gene; Wilson's disease; Psychiatric disorders; Inborn errors of metabolism; Treatable hereditary metabolic disorders; Copper homeostasis; Copper chelators; Schizophrenia; Bipolar disorders; Alcohol abuse; Mental health; Mental diseases; Etiopathogenesis; LIVER-DISEASE; COPPER; CERULOPLASMIN; HAPLOTYPE; DIAGNOSIS; GENE;

D O I：

10.1186/s12991-017-0142-6

中图分类号：

R749 [精神病学];

学科分类号：

100205 ;

摘要：

Background: Wilson's disease (WD) is a rare autosomal-recessive, inherited disorder caused by a mutation in the copper-transporting gene ATP7B affecting the liver and nervous system. About 30% of patients with WD may initially present with psychiatric symptoms, and diagnosis can be difficult to establish. The objectives of the present preliminary study were [1] to evaluate the relevance of serum copper (Cu) and ceruloplasmin (Cp) measures in hospitalized patients with psychiatric disorders; and [2] to identify possible mutations in the ATP7B gene in patients with abnormal biological copper profile. Methods: All psychiatric patients who participated in this study were hospitalized in Saint-Jean de Dieu Hospital (Lyon, France). Cp was measured by immunoturbidimetry and serum Cu by inductively coupled plasma-optical emission spectrometry. When Cp and serum Cu levels were inferior to, respectively, 0.18 g/L and 0.88 mg/L in combination with atypical psychiatric presentations, complete clinical examinations were performed by multidisciplinary physicians specialized in WD. In addition, mutation detection in the ATP7B gene was performed. Results: A total of 269 patients completed the study. (1) 51 cases (19%) showed both decreased Cp and Cu concentrations. (2) Molecular genetic tests were performed in 29 patients, and one ATP7B mutation (heterozygous state) was found in four patients. We identified three different missense mutations: p.His1069Gln, c.3207C>A (exon 14), p.Pro1379Ser, c.4135C>T (exon 21) and p.Thr1434Met, c.4301C>T (exon 21). No pathogenic mutation on either ATP7B allele was detected. Conclusion: Results of Cp and/or serum Cu concentrations below the normal limits are common in patients with psychiatric disorders and nonrelevant and/or informative for the WD diagnosis. WD diagnosis is based on a combination of clinical and biological arguments. Psychiatric patients with suspicion of WD should be evaluated in a reference center.

引用

页数：8

共 39 条

[21] Psychiatric symptoms as late onset of Wilson's disease: neuroradiological findings, clinical features and treatment [J].