Complexity of the diagnosis of Wilson disease in clinical practice : our experience in 15 patients
Copyright © 2013 Elsevier España, S.L. and AEEH y AEG. All rights reserved..
BACKGROUND: Wilson disease (WD) is an inherited disorder that causes copper (Cu) accumulation, leading to mainly liver, neurological and/or psychiatric manifestations. In the absence of some of the typical features, diagnosis of WD is difficult and is based on the combination of clinical, biochemical and genetic testing. The aim of this study was to illustrate the complexity of the approach to WD in daily clinical practice.
METHODS: We retrospectively analyzed the medical records of patients with WD, including the clinical presentation, histological and biochemical findings, and follow up after treatment. We also carried out genetic testing, and the Leipzig diagnostic score was applied.
RESULTS: We included 15 patients. Four were symptomatic, with liver (n=1), neurological (n=1), psychiatric (n=1) and mixed clinical manifestations (n=1), and 11 were presymptomatic, with elevated transaminases (n=8) and family study (n=3). We observed Kayser-Fleischer ring in 2 patients, both without neurologic symptoms. Ceruloplasmin ≤ 5 mg/dL was present in 73%, and 24-hour urinary Cu> 100 μg in 40%. Liver Cu was >250 μg/g.d.t. in 85% of the patients. The final diagnosis of WD was given by genetic testing (ATP7B gene mutations) in 5 patients with minimal disease features, including one symptomatic patient (psychiatric symptoms). We identified 5 previously reported mutations (p.M645R, p.R827W, p.H1069Q, p.P768L and p.G869R) and 3 unpublished mutations (p.L1313R, p.I1311T and p.A1179D); the most frequent mutation was p.M645R. After treatment, biochemical parameters (transaminases, urinary cooper) and symptoms improved, except in patients with neurological and psychiatric manifestations.
CONCLUSIONS: Our series illustrates the important role of genetic testing in the diagnosis of WD. The identification of the p.M645R mutation in most of our patients should be kept in mind in the molecular analysis of the ATP7B gene in our region.
| Errataetall: |
CommentIn: Gastroenterol Hepatol. 2015 Aug-Sep;38(7):467. - PMID 25619901 |
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| Medienart: |
E-Artikel |
| Erscheinungsjahr: |
2014 |
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| Erschienen: |
2014 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:37 |
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| Enthalten in: |
Gastroenterologia y hepatologia - 37(2014), 7 vom: 15. Aug., Seite 389-96 |
| Sprache: |
Spanisch |
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| Weiterer Titel: |
Dificultades en el diagnóstico de los pacientes con enfermedad de Wilson en la práctica clínica: experiencia de 15 casos |
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| Beteiligte Personen: |
Huarte-Muniesa, María Pilar [VerfasserIn] |
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| Links: |
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| Themen: |
ATP7B gene |
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| Anmerkungen: |
Date Completed 30.06.2016 Date Revised 09.08.2014 published: Print-Electronic CommentIn: Gastroenterol Hepatol. 2015 Aug-Sep;38(7):467. - PMID 25619901 Citation Status MEDLINE |
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| doi: |
10.1016/j.gastrohep.2014.02.007 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM237255901 |
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| 245 | 1 | 0 | |a Complexity of the diagnosis of Wilson disease in clinical practice |b our experience in 15 patients |
| 246 | 3 | 3 | |a Dificultades en el diagnóstico de los pacientes con enfermedad de Wilson en la práctica clínica: experiencia de 15 casos |
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| 500 | |a CommentIn: Gastroenterol Hepatol. 2015 Aug-Sep;38(7):467. - PMID 25619901 | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2013 Elsevier España, S.L. and AEEH y AEG. All rights reserved. | ||
| 520 | |a BACKGROUND: Wilson disease (WD) is an inherited disorder that causes copper (Cu) accumulation, leading to mainly liver, neurological and/or psychiatric manifestations. In the absence of some of the typical features, diagnosis of WD is difficult and is based on the combination of clinical, biochemical and genetic testing. The aim of this study was to illustrate the complexity of the approach to WD in daily clinical practice | ||
| 520 | |a METHODS: We retrospectively analyzed the medical records of patients with WD, including the clinical presentation, histological and biochemical findings, and follow up after treatment. We also carried out genetic testing, and the Leipzig diagnostic score was applied | ||
| 520 | |a RESULTS: We included 15 patients. Four were symptomatic, with liver (n=1), neurological (n=1), psychiatric (n=1) and mixed clinical manifestations (n=1), and 11 were presymptomatic, with elevated transaminases (n=8) and family study (n=3). We observed Kayser-Fleischer ring in 2 patients, both without neurologic symptoms. Ceruloplasmin ≤ 5 mg/dL was present in 73%, and 24-hour urinary Cu> 100 μg in 40%. Liver Cu was >250 μg/g.d.t. in 85% of the patients. The final diagnosis of WD was given by genetic testing (ATP7B gene mutations) in 5 patients with minimal disease features, including one symptomatic patient (psychiatric symptoms). We identified 5 previously reported mutations (p.M645R, p.R827W, p.H1069Q, p.P768L and p.G869R) and 3 unpublished mutations (p.L1313R, p.I1311T and p.A1179D); the most frequent mutation was p.M645R. After treatment, biochemical parameters (transaminases, urinary cooper) and symptoms improved, except in patients with neurological and psychiatric manifestations | ||
| 520 | |a CONCLUSIONS: Our series illustrates the important role of genetic testing in the diagnosis of WD. The identification of the p.M645R mutation in most of our patients should be kept in mind in the molecular analysis of the ATP7B gene in our region | ||
| 650 | 4 | |a English Abstract | |
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