RESUMEN
BACKGROUND AND OBJECTIVES: To evaluate the association between unexplained or gestational-hypertension-associated fetal growth restriction (FGR) and factor V Leiden, prothrombin A20210 mutations, and methylenetetrahydrofolate reductase (MTHFR) TT 677 genotype. DESIGN AND METHODS: Sixty-one women with a previous history of FGR and 93 parous women with uneventful pregnancies from the same ethnic background were investigated for the presence of factor V (FV) Leiden, prothrombin A20210 mutations, and MTHFR TT 677 genotype. Moreover, antiphospholipid antibodies, antithrombin, protein C, and total and free protein S antigen were determined in all patients. RESULTS: Among the controls, 2 (2.2%) carried the FV Leiden mutation, 19 (20.4%) were TT MTHFR homozygotes and 1 (1.6%) carried the prothrombin A20210 allele. The FV Leiden mutation was present in 8 women with FGR (13.1%, OR: 6.9, 95%CI 1.4-33.5), the TT MTHFR homozygosity in 17 (27.8%, OR: 1.5, 95%CI 0.7-3.2) and the A20210 prothrombin allele in 7 (11.5%, OR: 5.9, 95%CI 1.2-29.4). In six cases (9.8%) there was coexistence of more than one mutation (2 had the FV Leiden and the TT MTHFR genotype and 4 carried the A20210 prothrombin allele and TT MTHFR genotype). A logistic regression analysis showed that FV Leiden and A20210 prothrombin mutations were independently associated with the occurrence of FGR. INTERPRETATION AND CONCLUSIONS: Present data indicate an association between prothrombotic genetic factors and FGR.
Asunto(s)
Retardo del Crecimiento Fetal/etiología , Trombofilia/genética , Adolescente , Adulto , Estudios de Casos y Controles , Salud de la Familia , Femenino , Retardo del Crecimiento Fetal/sangre , Retardo del Crecimiento Fetal/genética , Variación Genética , Genotipo , Humanos , Mutación , Embarazo , Complicaciones Hematológicas del Embarazo/etiología , Trombofilia/sangreRESUMEN
Gestational hypertension with or without proteinuria is a multifactorial disease in which the presence of a hypercoagulable state has been suggested. The prothrombin G20210A, the Factor V (FV) Leiden mutations, and the C677T 5-10 methylenetethrahydrofolate reductase (MTHFR) polymorphism were investigated in 140 women with gestational hypertension and in 216 normotensive women from Southern Italy. Nine controls (4.1%) and 16 cases (11.4%; OR: 2.96, 95% CI: 1.27-6.91) carried the prothrombin A20210 allele. FV Leiden mutation was observed in 4 controls (1.8%) and 11 cases (7.9%; OR: 4.53, 95% CI: 1.41-14.53). The TT MTHFR genotype was found in 36 controls (16.6%) and 34 cases (24.4%: OR: 1.61, 95% CI: 0.96-2.74). The impact of potential confounding variables was evaluated using a logistic regression analysis. Nulliparity, Factor V Leiden and prothrombin A20210 carrier status resulted to be independent risk factors of having gestational hypertension with or without proteinuria. Imbalance of haemostasis, through prothrombotic genetic factors, may predispose to the occurrence of gestational hypertension.
Asunto(s)
Factor V/genética , Hipertensión/genética , Metilenotetrahidrofolato Deshidrogenasa (NADP)/genética , Mutación , Complicaciones Cardiovasculares del Embarazo , Protrombina/genética , Estudios de Casos y Controles , Femenino , Humanos , Hipertensión/complicaciones , Polimorfismo Genético , Embarazo , Proteinuria/etiología , Proteinuria/genética , Factores de RiesgoRESUMEN
Activated protein C resistance (APCR) is responsible for most cases of familial thrombosis. The factor V missense mutation Arg506 > Gln (FV Leiden) has been recognized as the commonest cause of this condition. Recently, it has been suggested that APCR is associated with second trimester fetal loss. We investigated the distribution of FV Leiden in a sample (n = 43) of Caucasian women with a history of two or more unexplained fetal losses. A group (n = 118) of parous women with uneventful pregnancies from the same ethnical background served as control. We found the mutation in 7 cases (16.28%) and 5 controls (4.24%; p = 0.011). A statistically significant difference between women with only early fetal loss vs those with late events (p = 0.04) was observed. Our data demonstrate a strong association between FV Leiden and fetal loss. Furthermore, they indicate that late events are more common in these patients.
Asunto(s)
Aborto Habitual/genética , Factor V/análisis , Mutación Puntual , Aborto Habitual/epidemiología , Adulto , Estudios de Casos y Controles , Intervalos de Confianza , Cartilla de ADN , Factor V/genética , Femenino , Frecuencia de los Genes , Humanos , Italia , Persona de Mediana Edad , Oportunidad Relativa , Reacción en Cadena de la Polimerasa , Embarazo , Población BlancaRESUMEN
High level of the CA 125 serum antigen is typically associated with ovarian malignancies. However the CA 125 antigen can also be found in association with inflammation or neoplasms of tissues other than ovaries, i.e. mesothelial cells, mullerian duct derivatives and gastroenteric tract. Therefore the marker is not specific for ovarian neoplasms. In childhood there is not a large experience about clinical meaning of high CA 125 serum levels. We report a case in a 14-year-old patient, female, affected by hydronephrosis. Our case confirms that high CA 125, especially in childhood, is not necessarily associated with ovarian or pelvic diseases. Moreover the review of literature suggests the opportunity to investigate CA 125 serum levels in children affected by hydronephrosis.
