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1.
Folia Med (Plovdiv) ; 46(1): 19-21, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15362808

RESUMO

UNLABELLED: The pathophysiology of preeclampsia remains largely unknown. A number of circulating placenta-produced factors have been implicated in causing the endothelial dysfunction and the clinical phenotype characteristic of preeclampsia. AIM: Determination of serum levels of placental soluble fms-like tyrosine-kinase-1 (sFlt-1) in pregnant women with preeclampsia. Eleven pregnant women with preeclampsia and 11 healthy women (controls) were included in the study. Determination of sFlt-1 was done with ELISA. The mean serum sFlt-1 levels of pregnant women with preeclampsia were twice as high as that of women with normal pregnancy. The highest level of sFlt-1 was found in women with severe preeclampsia. In women with mild form of preeclampsia the sFlt-1 level was close to that of the controls. sFlt-1 appears to be involved in the pathogenesis of preeclampsia and its serum levels can be used as a diagnostic marker of preeclampsia.


Assuntos
Proteínas da Matriz Extracelular/sangue , Placenta/metabolismo , Pré-Eclâmpsia/sangue , Adulto , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Pré-Eclâmpsia/fisiopatologia , Gravidez
2.
Folia Med (Plovdiv) ; 45(1): 5-7, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12943060

RESUMO

BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is a genetic disorder inherited in a recessive manner. The ARPKD gene is located on chromosome 6. The disease is characterised by specific changes in the kidney and liver. AIM: To make a review of modern achievements in studying the clinical, genetic and diagnostic problems concerning ARPKD and contribute an illustrative case. RESULTS: We reviewed modern research on the molecular genetics of autosomal recessive polycystic kidney disease related to PKHD1 gene located on chromosome 6p21-cen, as well as on the role of fibrocystin in the terminal differentiation of the collecting and biliary ductules. The clinical manifestations of the disease in infancy and in early childhood are analysed. A diagnostic algorithm is proposed incorporating both clinical and genetic methods. The illustrative case we reported of a 22-year-old patient with ARPKD supports the view that the disease occurs, though rarely, later than in childhood. CONCLUSION: The authors recommend that in cases with late manifestation of the disease in adolescence with chronic renal failure, possibilities be searched for extracorporeal replacement (renal transplantation) when this is allowed by the complications associated with the congenital liver fibrosis.


Assuntos
Cromossomos Humanos Par 6 , Rim Policístico Autossômico Recessivo/genética , Adulto , Algoritmos , Feminino , Humanos , Rim/patologia , Falência Renal Crônica/etiologia , Falência Renal Crônica/genética , Falência Renal Crônica/patologia , Fígado/patologia , Masculino , Linhagem , Rim Policístico Autossômico Recessivo/complicações , Rim Policístico Autossômico Recessivo/patologia , Receptores de Superfície Celular/genética
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