|
|
|
|
|
| Bastos,A.P.; Onuchic,L.F.. |
| Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common human life-threatening monogenic disorders. The disease is characterized by bilateral, progressive renal cystogenesis and cyst and kidney enlargement, often leading to end-stage renal disease, and may include extrarenal manifestations. ADPKD is caused by mutation in one of two genes, PKD1 and PKD2, which encode polycystin-1 (PC1) and polycystin-2 (PC2), respectively. PC2 is a non-selective cation channel permeable to Ca2+, while PC1 is thought to function as a membrane receptor. The cyst cell phenotype includes increased proliferation and apoptosis, dedifferentiation, defective planar polarity, and a secretory pattern associated with extracellular matrix remodeling. The two-hit... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Autosomal dominant polycystic kidney disease; PKD1 gene; PKD2 gene; Polycystins 1 and 2; Cystogenesis; Primary cilium. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000700001 |
| |
|
|
| Romão,E.A.; Moysés Neto,M.; Teixeira,S.R.; Muglia,V.F.; Vieira-Neto,O.M.; Dantas,M.. |
| The objective of the present study was to determine the frequency of the most common clinical features in patients with autosomal dominant polycystic kidney disease in a sample of the Brazilian population. The medical records of 92 patients with autosomal dominant polycystic kidney disease attended during the period from 1985 to 2003 were reviewed. The following data were recorded: age at diagnosis, gender, associated clinical manifestations, occurrence of stroke, age at loss of renal function (beginning of dialysis), and presence of a family history. The involvement of abdominal viscera was investigated by ultrasonography. Intracranial alterations were prospectively investigated by magnetic resonance angiography in 42 asymptomatic patients, and... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Autosomal dominant polycystic kidney disease; Hepatic cyst; Intracranial aneurysm; Arachnoid cyst; End-stage renal disease. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000400014 |
| |
|
|
| Balbo,B.E.P.; Sapienza,M.T.; Ono,C.R.; Jayanthi,S.K.; Dettoni,J.B.; Castro,I.; Onuchic,L.F.. |
| Positron-emission tomography/computed tomography (PET/CT) has improved cyst infection (CI) management in autosomal dominant polycystic kidney disease (ADPKD). The determinants of kidney and/or liver involvement, however, remain uncertain. In this study, we evaluated clinical and imaging factors associated with CI in kidney (KCI) and liver (LCI) in ADPKD. A retrospective cohort study was performed in hospital-admitted ADPKD patients with suspected CI. Clinical, imaging and surgical data were analyzed. Features of infected cysts were evaluated by PET/CT. Total kidney (TKV) and liver (TLV) volumes were measured by CT-derived multiplanar reconstruction. CI was detected in 18 patients who experienced 24 episodes during an interval of 30 months (LCI in 12, KCI... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Autosomal dominant polycystic kidney disease; Cyst infection; Positron-emission tomography/computed tomography; Kidney volume; Liver volume; Mortality. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014000700584 |
| |
|
|
|
