Late-onset Familial Amyloidotic Polyneuropathy with Bence Jones Proteinuria and Cardiomyopathy
Autor: | Laura Burriel Lobo, Amalia Hernández González, Carmen Orellana Alonso, Sira Carrasco García de León |
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Rok vydání: | 2017 |
Předmět: |
Pathology
medicine.medical_specialty Cardiomyopathy Case Report Late onset lcsh:RC321-571 030218 nuclear medicine & medical imaging 03 medical and health sciences 0302 clinical medicine Bence Jones proteinuria Biopsy medicine lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry biology medicine.diagnostic_test Hypesthesia business.industry General Neuroscience bence jones proteinuria transthyretin amyloidosis cardiac amyloidosis medicine.disease Bence Jones protein Transthyretin Cardiac amyloidosis biology.protein Neurology (clinical) business Polyneuropathy 030217 neurology & neurosurgery |
Zdroj: | Journal of Neurosciences in Rural Practice, Vol 08, Iss 03, Pp 448-450 (2017) Journal of Neurosciences in Rural Practice Journal Of Neurosciences In Rural Practice r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe instname |
ISSN: | 0976-3155 0976-3147 |
Popis: | Familial amyloidotic polyneuropathy is a genetically determined disease characterized by deposition of an anomalous transthyretin. A high index of suspicion is needed for this multisymptomatic and lethal disease to be diagnosed. The patient was a 70-year-old male examined due to hypesthesia in the hands and feet, plus difficulty walking. A neurophysiological study delivered the diagnosis of axonal sensorimotor polyneuropathy. He later developed cardiac symptoms and diarrhea. Urine laboratory analyses revealed a monoclonal spike of light chains (kappa). Biopsies of abdominal fat and bone marrow yielded normal results. The genetic study was compatible with a heterozygous Val30Met-transthyretin mutation. Very few case studies have described an association between familial amyloidotic polyneuropathy and monoclonal gammopathy. We stress that genetic confirmation is important regardless of the type of amyloid deposition revealed by the biopsy. |
Databáze: | OpenAIRE |
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