Estudo de genes das vias LIF e UPK3A e suas associações com asanomalias congênitas do Trato Urinário - CAKUT

Exportado OPUSMade available in DSpace on 2019-08-13T13:27:24Z (GMT). No. of bitstreams: 1 kerlane.pdf: 3848763 bytes, checksum: ff09b9791aa1abe6b1bebd33897b233a (MD5) Previous issue date: 1As anomalias congênitas do trato urinário CAKUT surgem da interação entre anormalidades genéticas e fatores ambientais presentes antes e durante a gestação. O melhor conhecimento da embriogênese renal permitiu o descobrimento de diversos genes envolvidos na formação dos rins e trato urinário, sendo já identificados aqueles envolvidos nas principais etapas do desenvolvimento normal. O objetivo deste estudo foi avaliar possíveis associações entre polimorfismos de genes das vias LIF e UPK3A e CAKUT. Embora estudos tenham demonstrado a participação desses genes no desenvolvimento renal, as suas associações ao CAKUT ainda necessitam de novas investigações para serem confirmadas. A investigação foi realizada com 538 voluntários brasileiros sendo o grupo controle composto por 160 do sexo feminino e 102 do sexo masculino, totalizando 262 indivíduos saudáveis, e o grupo dos casos de 115 indivíduos do sexo feminino e 161 indivíduos do sexo masculino, totalizando 276 pacientes pediátricos provenientes do ambulatório de CAKUT da UFMG. Os rs 737812, 929271 e 737921 de LIF e o rs 1135360 de UPK3A foram investigados. Nas análises de associação entre caso e controle, não se evidenciou correlação entre os rs 737812 e 929271 de LIF e tampouco do rs 1135360 do UPK3A e o CAKUT. Encontrou-se associação positiva entre o rs 737921 e CAKUT geral, bem como com os diversos fenótipos estudados.The congenital anomalies of the urinary tract CAKUT emerge from the interaction between genetic anomalies and environmental factors present before and during pregnancy. A deeper knowledge of the renal embryogenesis has permitted the discovery of several genes involved in the formation of kidneys and urinary tract, having already identified those involved in the main phases of normal development. The aim of this study was to evaluate possible associations between pathways of gene polymorphisms LIF and UPK3A and CAKUT. Even though some studies have already demonstrated their participation in the renal development, theses associations still need reinforcement to be corroborated. The study was done with 538 Brazilian volunteers, the control group being 160 females and 102 males, totaling 262 healthy individuals. The case group contained 115 females and 161 males, totaling 276 pediatric patients originated from the CAKUT ambulatory from UFMG. The rs 737812, 929271 and 737921 of LIF and rs 1135360 of UPK3A were investigated. In association analyzes between cases and controls, no correlation was seen between the rs 737812 and 929271 of LIF nor the rs 1135360 of UPK3A and CAKUT. There was a positive association between rs 737921 and general CAKUT as well as with the various phenotypes studied

A predictive model of chronic kidney disease in patients with congenital anomalies of the kidney and urinary tract.

The antenatal detection of congenital anomalies of the kidney and urinary tract (CAKUT) has permitted early management of these conditions. The aim of this study was to identify predictive factors associated with chronic kidney disease (CKD) in CAKUT. We also propose a risk score of CKD