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1.
J Cardiovasc Med (Hagerstown) ; 10(1): 68-71, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19708131

RESUMO

Familial hypokalemic periodic paralysis is an autosomal dominant muscle disorder characterized by episodic attacks of muscle weakness, accompanied by a decrease in blood potassium levels. It is based on genetic mutations in the genes CACNA1S (most frequent, encoding the skeletal muscle calcium channel) and SCN4A (10% of cases, encoding the sodium channel). Few cases have been reported with cardiac dysrhythmia. We report a rare case of a patient with a novel SCN4A mutation who presented, on ECG, extreme bradycardia and syncopal sinus arrest that required a temporary pacemaker implant


Assuntos
Bradicardia/genética , Frequência Cardíaca/genética , Mutação , Paralisia Periódica Hiperpotassêmica/genética , Parada Sinusal Cardíaca/genética , Canais de Sódio/genética , Adulto , Bradicardia/fisiopatologia , Bradicardia/terapia , Estimulação Cardíaca Artificial , Análise Mutacional de DNA , Eletrocardiografia , Humanos , Masculino , Canal de Sódio Disparado por Voltagem NAV1.4 , Marca-Passo Artificial , Paralisia Periódica Hiperpotassêmica/complicações , Paralisia Periódica Hiperpotassêmica/fisiopatologia , Paralisia Periódica Hiperpotassêmica/terapia , Compostos de Potássio/administração & dosagem , Parada Sinusal Cardíaca/fisiopatologia , Parada Sinusal Cardíaca/terapia , Síncope/genética , Resultado do Tratamento
3.
Nephrol Dial Transplant ; 23(5): 1628-35, 2008 May.
Artigo em Inglês | MEDLINE | ID: mdl-18057066

RESUMO

BACKGROUND: In Fabry disease, end-stage renal disease (ESRD) and severe neurologic and cardiac complications represent the leading causes of late morbidity and mortality. A comprehensive Italian nationwide survey study was conducted to explore changes in cardiac status and renal allograft function in Fabry patients on renal replacement therapy (RRT) and enzyme replacement therapy (ERT). METHODS: This study was designed as a cross-sectional survey study with prospective follow-up. Of the 34 patients identified via searches in registries, 31 males and 2 females who received RRT and ERT (agalsidase beta in 30 patients, agalsidase alpha in 3) were included. Left ventricular mass index (LVMI), interventricular septal thickness at end diastole (IVSD), left ventricular posterior wall thickness (LVPWT) and renal allograft function were assessed at ERT baseline and subsequently at yearly intervals. RESULTS: The patients in the dialysis and transplant groups had been started on dialysis at age 42.0 and 37.1 years (mean), respectively, and patients in the transplant group received their renal allograft at age 39.8 years (mean). The mean age at the start of ERT was similar, 44.1 and 44.6 years, respectively. The mean RRT follow-up was 61.1 and 110.6 months for dialysis and transplant patients, respectively, whereas the ERT duration was 45.1 and 48.4 months, respectively. Cardiac parameters increased in dialysis patients. In transplant patients, mean LVMI seemed to plateau during agalsidase therapy at a lower level as compared to baseline. Decline in renal allograft function was relatively mild (-1.92 ml/min/year). Agalsidase therapy was well tolerated. Serious ERT-unrelated events occurred more often in the dialysis group. CONCLUSIONS: Kidney transplantation should be the standard of care for Fabry patients progressing towards ESRD. Transplanted Fabry patients on ERT may do better than patients remaining on maintenance dialysis. Larger, controlled studies in Fabry patients with ESRD will have to demonstrate if ERT is able to change the trajectory of cardiac disease and can preserve graft renal function.


Assuntos
Doença de Fabry/tratamento farmacológico , Doença de Fabry/terapia , Isoenzimas/uso terapêutico , Terapia de Substituição Renal , alfa-Galactosidase/uso terapêutico , Adulto , Idoso , Estudos Transversais , Doença de Fabry/complicações , Feminino , Humanos , Hipertrofia Ventricular Esquerda/etiologia , Itália , Falência Renal Crônica/etiologia , Falência Renal Crônica/terapia , Transplante de Rim/fisiologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Proteínas Recombinantes/uso terapêutico , Sistema de Registros , Disfunção Ventricular Esquerda/etiologia
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