Journal of hypertension · 2001
Genetic heterogeneity of familial hyperkalaemic hypertension.
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Disse-Nicodeme S, Desitter I, Fiquet-Kempf B, Houot A M, Stern N, Delahousse M, Potier J, Ader J L, Jeunemaitre X
Аннотация
BACKGROUND: Familial hyperkalaemic hypertension (FHH) is a Mendelian form of low-renin hypertension characterized by hyperkalaemia and hyperchloraemic acidosis despite a normal glomerular filtration rate. To date, three different loci have been identified, on chromosomes 1, 17 and 12.
OBJECTIVE: To test for genetic linkage between the three FHH loci and three new affected kindreds.
DESIGN AND METHODS: Clinical, biological and genetic analyses were made of three kindreds, including 11 affected individuals among 25 members. Genotyping was performed using four series of microsatellite markers spanning the chromosomes 1, 17 and 12 loci, and the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene.
RESULTS: Segregation of the trait in each kindred was compatible with an autosomal transmission, the affected individuals displaying reasonably consistent biochemical abnormalities and the expected variability in arterial hypertension. Multipoint linkage analysis excluded linkage with the four candidate loci in kindreds 1 and 2, but not with the chromosome 1 locus in kindred 3.
CONCLUSION: These results demonstrate further genetic heterogeneity and that a fourth gene is responsible for FHH in at least two unrelated kindreds. They suggest a variety of molecular defects leading to FHH.
OBJECTIVE: To test for genetic linkage between the three FHH loci and three new affected kindreds.
DESIGN AND METHODS: Clinical, biological and genetic analyses were made of three kindreds, including 11 affected individuals among 25 members. Genotyping was performed using four series of microsatellite markers spanning the chromosomes 1, 17 and 12 loci, and the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene.
RESULTS: Segregation of the trait in each kindred was compatible with an autosomal transmission, the affected individuals displaying reasonably consistent biochemical abnormalities and the expected variability in arterial hypertension. Multipoint linkage analysis excluded linkage with the four candidate loci in kindreds 1 and 2, but not with the chromosome 1 locus in kindred 3.
CONCLUSION: These results demonstrate further genetic heterogeneity and that a fourth gene is responsible for FHH in at least two unrelated kindreds. They suggest a variety of molecular defects leading to FHH.
Предметные рубрики MeSH
AdolescentAdultAgedCarrier ProteinsChildChromosome MappingChromosomes, Human, Pair 1Chromosomes, Human, Pair 12Chromosomes, Human, Pair 17FemaleGenetic LinkageGenetic VariationGenotypeHumansHyperkalemiaHypertensionInfantMaleMiddle AgedPedigreePseudohypoaldosteronismReceptors, DrugSodium Chloride SymportersSolute Carrier Family 12, Member 3Symporters