RESUMO
Inherited hypokalaemic alkalosis with low blood pressure can be divided into two groups-Gitelman's syndrome, featuring hypocalciuria, hypomagnesaemia and milder clinical manifestations, and Bartter's syndrome, featuring hypercalciuria and early presentation with severe volume depletion. Mutations in the renal Na-Cl cotransporter have been shown to cause Gitelman's syndrome. We demonstrate linkage of Bartter's syndrome to the renal Na-K-2Cl cotransporter gene NKCC2, and identify frameshift or non-conservative missense mutations for this gene that co-segregate with the disease. These findings demonstrate the molecular basis of Bartter's syndrome, provide the basis for molecular classification of patients with inherited hypokalaemic alkalosis, and suggest potential phenotypes in heterozygous carriers of NKCC2 mutations.
Assuntos
Síndrome de Bartter/genética , Proteínas de Transporte/genética , Mutação , Sequência de Aminoácidos , Síndrome de Bartter/etiologia , Sequência de Bases , Proteínas de Transporte/química , Clonagem Molecular , Consanguinidade , DNA Complementar , Feminino , Marcadores Genéticos , Homozigoto , Humanos , Masculino , Dados de Sequência Molecular , Linhagem , Análise de Sequência de DNA , Simportadores de Cloreto de Sódio-PotássioRESUMO
Three children with sickle cell disease who had various combinations of severe hypertension, convulsion, and cerebral haemorrhage are presented. One child had elevated plasma renin activity while another had elevated 24-h urinary catecholamines. The aetiology of hypertension in sickle cell disease seems to be multifactorial. Recognition of this serious complication of sickle cell disease is important not only to avoid its consequences but also to avoid potentially dangerous diagnostic procedures.