'Familial Pseudohyperkalemia maps to the same locus as Dehydrated Hereditary Stomatocytosis (Hereditary Xerocytosis)'
| Autor: | J.F. Ajetunmobi, Jean Delaunay, Silverio Perrotta, Gordon W. Stewart, Leopoldo Zelante, Achille Iolascon, Paolo Gasparini, M. Carella |
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| Přispěvatelé: | Iolascon, A, Stewart, Gw, Ajetunmobi, Jf, Perrotta, S, Delaunay, J, Carella, M, Zelante, L, Gasparini, Paolo, Perrotta, Silverio, Gasparini, P., Iolascon, Achille |
| Rok vydání: | 1999 |
| Předmět: |
Genetic Markers
Male Hemolytic anemia medicine.medical_specialty Pathology Erythrocytes Hyperkalemia Genetic Linkage Immunology Biology Anemia Hemolytic Congenital Biochemistry Internal medicine medicine Humans Familial pseudohyperkalemia Recombination Genetic Chromosome Mapping Cell Biology Hematology medicine.disease Hemolysis Red blood cell medicine.anatomical_structure Endocrinology Scotland Hereditary stomatocytosis Potassium Dehydrated hereditary stomatocytosis Female Lod Score medicine.symptom Chromosomes Human Pair 16 Stomatocytosis |
| Zdroj: | Scopus-Elsevier Europe PubMed Central |
| Popis: | Familial pseudohyperkalemia is a “leaky red blood cell” condition in which the cells show a temperature-dependent loss of potassium (K) from red blood cells when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced lifespan in vivo but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at 37°C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis (hereditary xerocytosis). Physiological studies have shown that the passive leak to K has an abnormal temperature dependence, such that the leak is less sensitive to temperature than that in normal cells. We performed genetic mapping on the original family and found that the condition in this kindred maps to the same locus (16q23-ter) that we have previously identified for an Irish family with dehydrated hereditary stomatocytosis, which does not show the same temperature effects. |
| Databáze: | OpenAIRE |
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