RESUMO
Liddle syndrome is an inherited form of arterial hypertension with autosomal dominant pattern of inheritance. It is caused by activating mutation of genes coding of the epithelial sodium channel in distal nephron. Mutation leads to excessive reabsorbtion of sodium ions and volume expansion resulting in arterial hypertension. Antoher typical laboratory findings are hypokalaemia, low levels of serum aldosteron and metabolic alkalosis. Phenotypic variability makes it difficult to identify patients with Liddle syndrome, often resulting in misdiagnosis and severe complications at early age. Genetic studies should be done to confirm the diagnosis. Therapy of Liddle syndrome is based on administration of epithelial sodium channel blocker amilorid.
Assuntos
Hipertensão , Hipopotassemia , Síndrome de Liddle , Humanos , Síndrome de Liddle/diagnóstico , Síndrome de Liddle/genética , Síndrome de Liddle/terapia , Canais Epiteliais de Sódio/genética , Canais Epiteliais de Sódio/metabolismo , Hipopotassemia/diagnóstico , Hipopotassemia/etiologia , Hipopotassemia/terapia , MutaçãoRESUMO
Essential hypertension is a highly prevalent disease in the general population. Secondary hypertension is characterized by a specific and potentially reversible cause of increased blood pressure levels. Some secondary endocrine forms of hypertension are common (caused by uncontrolled cortisol, aldosterone, or catecholamines production). This article describes rare monogenic forms of hypertension, characterized by electrolyte disorders and suppressed renin-aldosterone axis. They represent simple models for the physiology of renal control of sodium levels and plasma volume, thus reaching a high scientific interest. Furthermore, they could explain some features closer to the essential phenotype of hypertension, suggesting a mechanistically driven personalized treatment.
Assuntos
Hiperplasia Suprarrenal Congênita , Artrogripose , Fissura Palatina , Pé Torto Equinovaro , Deformidades Congênitas da Mão , Hipertensão , Síndrome de Liddle , Síndrome de Excesso Aparente de Minerolocorticoides , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/metabolismo , Hiperplasia Suprarrenal Congênita/terapia , Artrogripose/complicações , Artrogripose/metabolismo , Artrogripose/terapia , Fissura Palatina/complicações , Fissura Palatina/metabolismo , Fissura Palatina/terapia , Pé Torto Equinovaro/complicações , Pé Torto Equinovaro/metabolismo , Pé Torto Equinovaro/terapia , Deformidades Congênitas da Mão/complicações , Deformidades Congênitas da Mão/metabolismo , Deformidades Congênitas da Mão/terapia , Humanos , Hipertensão/tratamento farmacológico , Hipertensão/etiologia , Hipertensão/metabolismo , Hipertensão/fisiopatologia , Síndrome de Liddle/complicações , Síndrome de Liddle/metabolismo , Síndrome de Liddle/terapia , Síndrome de Excesso Aparente de Minerolocorticoides/complicações , Síndrome de Excesso Aparente de Minerolocorticoides/metabolismo , Síndrome de Excesso Aparente de Minerolocorticoides/terapia , Síndrome de Excesso Aparente de MinerolocorticoidesRESUMO
Hereditary disorders of potassium homeostasis are an interesting group of disorders, affecting people from the newborn period to adults of all ages. The clinical presentation varies from severe hypotension at birth to uncontrolled hypertension in adults, often associated with abnormal potassium values, although many patients may have a normal serum potassium concentration despite being affected by the genetic disorder. A basic understanding of these disorders and their underlying mechanisms has significant clinical implications, especially in the few patients with subtle clinical signs and symptoms. We present a summary of these disorders, with emphasis on the clinical presentation and genetic mechanisms of these disorders.
Assuntos
Hiperpotassemia/genética , Hipopotassemia/genética , Potássio/metabolismo , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/genética , Hiperplasia Suprarrenal Congênita/terapia , Síndrome de Bartter/diagnóstico , Síndrome de Bartter/genética , Síndrome de Bartter/terapia , Síndrome de Gitelman/diagnóstico , Síndrome de Gitelman/genética , Síndrome de Gitelman/terapia , Humanos , Hiperaldosteronismo/diagnóstico , Hiperaldosteronismo/genética , Hiperaldosteronismo/terapia , Hipoaldosteronismo/diagnóstico , Hipoaldosteronismo/genética , Hipoaldosteronismo/terapia , Síndrome de Liddle/diagnóstico , Síndrome de Liddle/genética , Síndrome de Liddle/terapia , Síndrome de Excesso Aparente de Minerolocorticoides/diagnóstico , Síndrome de Excesso Aparente de Minerolocorticoides/genética , Síndrome de Excesso Aparente de Minerolocorticoides/terapia , Pseudo-Hipoaldosteronismo/diagnóstico , Pseudo-Hipoaldosteronismo/genética , Pseudo-Hipoaldosteronismo/terapiaRESUMO
Pediatric hypertension is usually secondary to an underlying identifiable cause, most often renal. Hypertension with low Plasma Rennin Activity (PRA), although rare, is important as it is often familial and is associated with single gene disorders (monogenic). It hence carries greater genetic implications for the family. The authors' hereby report a case of low PRA hypertension which was diagnosed as Liddle Syndrome, an autosomal dominant form of hereditary hypertension. Early detection and appropriate treatment may help to improve the long term morbidity and mortality in children with this condition.
Assuntos
Síndrome de Liddle/diagnóstico , Diagnóstico Diferencial , Predisposição Genética para Doença , Humanos , Lactente , Síndrome de Liddle/genética , Síndrome de Liddle/terapia , MasculinoRESUMO
We present a case of a 52-year-old male with Liddle syndrome. The results of genetic studies and treatment in this condition is described.