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1.
Clin Lab ; 66(12)2020 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-33337841

RESUMO

BACKGROUND: We report a case of a multiple myeloma with light polymerized kappa chains, a phenomenon rarely described. METHODS: Capillary electrophoresis of serum proteins (Capillarys 2 Flex Piercing Sebia ®) revealed the presence of two migrant monoclonal peaks in the gamma globulin area and identified by immunosubtraction (IS) as light chain (LC) κ. These results suggest either the presence of a LCκ monoclonal IgD or IgE or the presence of a biclonal gammopathy or finally a LCκ polymerization. Serum immunofixation (IF) was carried out, after serum depolymerization with beta mercaptoethanol (BME), using as antiserum anti IgD, anti IgE and anti LCκ total and free LC κ. Capillary electrophoresis and IS were also repeated after serum treatment with BME. RESULTS: The depolymerization of our patient's serum showed the transformation of the two serum peaks into a single peak at the level of the κ light chains on both capillary electrophoresis and immunotyping techniques (IF and IS). CONCLUSIONS: Polymerization of kappa light chains is a rare phenomenon which can cause difficulty in the interpretation of the serum protein electrophoresis and immunotyping.


Assuntos
Mieloma Múltiplo , Paraproteinemias , Humanos , Cadeias Leves de Imunoglobulina , Cadeias kappa de Imunoglobulina , Mieloma Múltiplo/diagnóstico , Polimerização
2.
Clin Lab ; 66(10)2020 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-33073950

RESUMO

Hereditary xanthinuria was the first inherited purine metabolism disorder described. It is a rare pathology, which is most often asymptomatic and whose incidence is therefore underestimated. We report the case of a patient with an undetectable level of uric acid in the blood, discovered during a systematic biological assessment. This case report recalls the existence of this rare metabolic disorder, which is usually benign, but can lead to complications, and the importance of considering an abnormality of the purine cycle when discovering a hypo-uricemia.


Assuntos
Erros Inatos do Metabolismo da Purina-Pirimidina , Humanos , Erros Inatos do Metabolismo da Purina-Pirimidina/diagnóstico , Erros Inatos do Metabolismo da Purina-Pirimidina/genética , Ácido Úrico , Xantina
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