RESUMO
Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. Early death occurs in most cases from anuria, pulmonary hypoplasia, and refractory arterial hypotension. The disease is linked to mutations in the genes encoding several components of the renin-angiotensin system (RAS): AGT (angiotensinogen), REN (renin), ACE (angiotensin-converting enzyme), and AGTR1 (angiotensin II receptor type 1). Here, we review the series of 54 distinct mutations identified in 48 unrelated families. Most of them are novel and ACE mutations are the most frequent, observed in two-thirds of families (64.6%). The severity of the clinical course was similar whatever the mutated gene, which underlines the importance of a functional RAS in the maintenance of blood pressure and renal blood flow during the life of a human fetus. Renal hypoperfusion, whether genetic or secondary to a variety of diseases, precludes the normal development/ differentiation of proximal tubules. The identification of the disease on the basis of precise clinical and histological analyses and the characterization of the genetic defects allow genetic counseling and early prenatal diagnosis.
Assuntos
Genes Recessivos , Mutação , Sistema Renina-Angiotensina/genética , Anormalidades Urogenitais/genética , Angiotensinogênio/genética , Animais , Modelos Animais de Doenças , Estudos de Associação Genética , Humanos , Túbulos Renais Proximais/anormalidades , Peptidil Dipeptidase A/genética , Receptor Tipo 1 de Angiotensina/genética , Renina/genética , Anormalidades Urogenitais/diagnósticoRESUMO
La gliomatosis peritoneal es una forma de extensión muy poco frecuente de los teratomas ováricos. Se caracteriza por la implantación miliar de tejido glial dentro de la cavidad peritoneal en pacientes con teratomas ováricos, generalmente inmaduros. Puede semejar un cuadro de carcinomatosis peritoneal. A pesar de su extensión intraperitoneal, la gliomatosis peritoneal no afecta adversamente al pronóstico del teratoma ovárico primario si los implantes de tejido glial se componen de tejido maduro y, por tanto, justifica tratamientos conservadores. El grado histológico del teratoma es el factor pronóstico que debe indicar el tratamiento complementario necesario. Su pronóstico es bueno, aunque se han descrito casos de malignización
Peritoneal gliomatosis is a very rare metastatic form of ovarian teratoma, characterized by miliary dissemination of glial tissue inside the peritoneal cavity in patients with an ovarian usually immature teratoma. Peritoneal gliomatosis may resemble peritoneal carcinomatosis. Despite peritoneal dissemination, if the glial tissue implants are composed of mature tissue, peritoneal gliomatosis does not adversely affect the prognosis of the primary ovarian teratoma. Consequently, conservative treatment is warranted. The main prognostic factor is the histological grade of the teratoma, which indicates the required complementary treatment. The prognosis of peritoneal gliomatosis is favorable, although cases of malignant transformation have been reporte (AU)
