New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson’s disease
Abstract Background Aceruloplasminaemia is a very rare autosomal recessive disorder caused by a mutation in the ceruloplasmin gene, which is clinically manifested by damage to the nervous system and retinal degeneration. This classical clinical picture can be preceded by diabetes mellitus and microc...
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| Format: | Article |
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BMC
2020-04-01
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| Series: | BMC Gastroenterology |
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| Online Access: | http://link.springer.com/article/10.1186/s12876-020-01237-8 |
| _version_ | 1819013627089256448 |
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| author | Mária Ondrejkovičová Sylvia Dražilová Monika Drakulová Juan López Siles Renáta Zemjarová Mezenská Petra Jungová Martin Fabián Boris Rychlý Miroslav Žigrai |
| author_facet | Mária Ondrejkovičová Sylvia Dražilová Monika Drakulová Juan López Siles Renáta Zemjarová Mezenská Petra Jungová Martin Fabián Boris Rychlý Miroslav Žigrai |
| author_sort | Mária Ondrejkovičová |
| collection | DOAJ |
| description | Abstract Background Aceruloplasminaemia is a very rare autosomal recessive disorder caused by a mutation in the ceruloplasmin gene, which is clinically manifested by damage to the nervous system and retinal degeneration. This classical clinical picture can be preceded by diabetes mellitus and microcytic anaemia, which are considered to be early manifestations of aceruloplasminaemia. Case presentation In our report, we describe the case of a patient with aceruloplasminaemia detected in an early stage (without clinical symptoms of damage to the nervous system) during the search for the cause of hepatopathy with very low values of serum ceruloplasmin. Molecular genetic examination of the CP gene for ceruloplasmin identified a new variant c.1664G > A (p.Gly555Glu) in the homozygous state, which has not been published in the literature or population frequency databases to date. Throughout the 21-month duration of chelatase treatment, the patient, who is 43 years old, continues to be without neurological and psychiatric symptomatology. We observed a decrease in the serum concentration of ferritin without a reduction in iron deposits in the brain on magnetic resonance imaging. Conclusion Currently, there is no unequivocal recommendation of an effective treatment for aceruloplasminaemia. Early diagnosis is important in the neurologically asymptomatic stage. |
| first_indexed | 2024-12-21T02:02:57Z |
| format | Article |
| id | doaj.art-ccea115b715643bcb145806b35267f60 |
| institution | Directory Open Access Journal |
| issn | 1471-230X |
| language | English |
| last_indexed | 2024-12-21T02:02:57Z |
| publishDate | 2020-04-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Gastroenterology |
| spelling | doaj.art-ccea115b715643bcb145806b35267f602022-12-21T19:19:35ZengBMCBMC Gastroenterology1471-230X2020-04-012011610.1186/s12876-020-01237-8New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson’s diseaseMária Ondrejkovičová0Sylvia Dražilová1Monika Drakulová2Juan López Siles3Renáta Zemjarová Mezenská4Petra Jungová5Martin Fabián6Boris Rychlý7Miroslav Žigrai8Department of Gastroenterology, Faculty of Medicine, University Hospital, Slovak Medical UniversityDepartment of Internal medicine, Hospital PopradHematologic Outpatient Clinic, Synlab Slovakia, s.r.o.Imegen, Genetaq, Centro de Genetica MolecularLaboratory of Medical Genetics, Alpha Medical s.r.o.Department of Clinical Genetics, University HospitalDr. Magnet, Department of Magnetic Resonance Imaging (MRI)Cytopathos1st Department of Internal Medicine, Faculty of Medicine, University Hospital, Slovak Medical UniversityAbstract Background Aceruloplasminaemia is a very rare autosomal recessive disorder caused by a mutation in the ceruloplasmin gene, which is clinically manifested by damage to the nervous system and retinal degeneration. This classical clinical picture can be preceded by diabetes mellitus and microcytic anaemia, which are considered to be early manifestations of aceruloplasminaemia. Case presentation In our report, we describe the case of a patient with aceruloplasminaemia detected in an early stage (without clinical symptoms of damage to the nervous system) during the search for the cause of hepatopathy with very low values of serum ceruloplasmin. Molecular genetic examination of the CP gene for ceruloplasmin identified a new variant c.1664G > A (p.Gly555Glu) in the homozygous state, which has not been published in the literature or population frequency databases to date. Throughout the 21-month duration of chelatase treatment, the patient, who is 43 years old, continues to be without neurological and psychiatric symptomatology. We observed a decrease in the serum concentration of ferritin without a reduction in iron deposits in the brain on magnetic resonance imaging. Conclusion Currently, there is no unequivocal recommendation of an effective treatment for aceruloplasminaemia. Early diagnosis is important in the neurologically asymptomatic stage.http://link.springer.com/article/10.1186/s12876-020-01237-8AceruloplasminemiaCeruloplasminWilson’s diseaseMicrocytic hypochrome anaemiaCase report |
| spellingShingle | Mária Ondrejkovičová Sylvia Dražilová Monika Drakulová Juan López Siles Renáta Zemjarová Mezenská Petra Jungová Martin Fabián Boris Rychlý Miroslav Žigrai New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson’s disease BMC Gastroenterology Aceruloplasminemia Ceruloplasmin Wilson’s disease Microcytic hypochrome anaemia Case report |
| title | New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson’s disease |
| title_full | New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson’s disease |
| title_fullStr | New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson’s disease |
| title_full_unstemmed | New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson’s disease |
| title_short | New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson’s disease |
| title_sort | new mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia obesity and supposed wilson s disease |
| topic | Aceruloplasminemia Ceruloplasmin Wilson’s disease Microcytic hypochrome anaemia Case report |
| url | http://link.springer.com/article/10.1186/s12876-020-01237-8 |
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