title: Familial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis).
abstract: 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 degrees 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.
authors.affiliation: D Biomed Età Evolutiva, University di Bari, Bari, Italy; the Department of Medicine, University College London, Rayne Institute, London, UK. a.iotascon@biotaev.uniba.it
authors.forename: A
authors.initials: A
authors.lastname: Iolascon
authors.forename: G W
authors.initials: GW
authors.lastname: Stewart
authors.forename: J F
authors.initials: JF
authors.lastname: Ajetunmobi
authors.forename: S
authors.initials: S
authors.lastname: Perrotta
authors.forename: J
authors.initials: J
authors.lastname: Delaunay
authors.forename: M
authors.initials: M
authors.lastname: Carella
authors.forename: L
authors.initials: L
authors.lastname: Zelante
authors.forename: P
authors.initials: P
authors.lastname: Gasparini
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000097:blood / Q000235:genetics*; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D004912:Erythrocytes / Q000378:metabolism*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D006947:Hyperkalemia / Q000097:blood / Q000235:genetics*; D008126:Lod Score; D008297:Male; D011188:Potassium / Q000097:blood*; D011995:Recombination, Genetic; D012606:Scotland
chemical_list: D005819:Genetic Markers; D011188:Potassium