Cystic Kidney Diseases
Mostrando 1-11 de 11 artigos, teses e dissertações.
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1. O crescimento cístico renal é o principal determinante para o desenvolvimento de hipertensão e déficit de concentração em camundongos com deficiência do gene Pkd1 / Renal cyst growth is the main determinant for the development of hypertension and concentration deficit in Pkd1-deficient mice
O desenvolvimento de hipertensão arterial (HAS) ocorre dez anos mais cedo em pacientes com doença renal policística autossômica dominante (DRPAD) comparados à população geral, estando presente em ~60% dos indivíduos afetados antes da perda de função renal. Déficit de concentração renal também se constitui em um achado precoce nesses pacientes.
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 13/11/2012
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2. Pkd1 haploinsufficiency increases renal damage and induces microcyst formation following ischemia/reperfusion in mice / A haploinsuficiência de Pkd1 aumenta a lesão renal e induz formação de microcistos após isquemia/reperfusão em camundongos
A maior parte dos casos de doença renal policística autossômica dominante (DRPAD) é causada por mutações no gene PKD1 (Polycystic Kidney Disease 1). O insulto por isquemia/reperfusão (IR) constitui-se em uma causa freqüente de lesão renal aguda, incluindo a população de pacientes com DRPAD, mas a relação entre policistina-1 e IR é essencialment
Publicado em: 2010
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3. Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disease characterized by a malformation complex which includes cystically dilated tubules in the kidneys and ductal plate malformation in the liver. The disorder is observed primarily in infancy and childhood, being responsible for significant pediatric morbidity and mortality. All typical
Brazilian Journal of Medical and Biological Research. Publicado em: 2006-12
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4. Cystic renal cell carcinoma arising from multilocular cystic nephroma of the same kidney
Multilocular cystic nephroma is an uncommon benign entity grouped among the cystic non-genetic diseases. It is characterized by variable-sized, non-communicating cysts separated by irregular thin walled septa. Though multilocular cystic nephroma is usually considered a benign lesion, malignant changes in the cysts should not be overlooked.
International braz j urol. Publicado em: 2006-04
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5. Renal Involvement in Cystic Fibrosis: Diseases Spectrum and Clinical Relevance
Background and objectives: Clinically relevant kidney involvement is uncommonly described in adult patients with cystic fibrosis (CF). We sought to report on a series of patients with CF and kidney biopsy–documented renal involvement.
American Society of Nephrology.
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6. Elevated c-myc protooncogene expression in autosomal recessive polycystic kidney disease.
The polycystic kidney diseases (PKDs) are a group of disorders characterized by the growth of epithelial cysts from the nephrons and collecting ducts of kidney tubules. The diseases can be inherited or can be provoked by environmental factors. To investigate the molecular basis of the abnormal cell growth associated with PKD, c-myc protooncogene expression w
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7. Molecular diagnosis of some common genetic diseases in Russia and the former USSR: present and future.
The current state of molecular diagnosis of some common genetic diseases, including cystic fibrosis, Duchenne muscular dystrophy, haemophilia A and B, phenylketonuria, and thalassaemia, in Russia and elsewhere in the former USSR is reviewed. Data on carrier detection and prenatal diagnosis are presented and some objective problems and obstacles hampering eff
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8. Downregulation of Ke 6, a novel gene encoded within the major histocompatibility complex, in murine polycystic kidney disease.
Polycystic kidney disease (PKD) is characterized by progressive enlargement of the kidneys due to numerous expanding cysts ultimately leading to renal failure. We have identified a gene, Ke 6, located within the H-2K/tw5 region on mouse chromosome 17, which is downregulated in two distinct murine models of heritable PKD. Ke 6 is a member of the short-chain a
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9. Bestrophin-1 Enables Ca2+-activated Cl− Conductance in Epithelia*
Epithelial cells express calcium-activated Cl− channels of unknown molecular identity. These Cl− channels play a central role in diseases such as secretory diarrhea, polycystic kidney disease, and cystic fibrosis. The family of bestrophins has been suggested to form calcium-activated Cl− channels. Here, we demonstrate molecular and functional expressio
American Society for Biochemistry and Molecular Biology.
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10. Primary ciliary dyskinesia: current state of the art
Primary ciliary dyskinesia (PCD) is usually inherited as an autosomal recessive disorder and presents with upper and lower respiratory tract infection, and mirror image arrangement in around 50% of cases. Cilia dysfunction is also implicated in a wider spectrum of disease, including polycystic liver and kidney disease, central nervous system problems includi
BMJ Group.
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11. A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution
Nephronophthisis (NPHP) comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults. The most prominent histologic feature of NPHP consists of development of renal fibrosis, which, in chronic renal failure of any origin, represents the pathogenic ev
The American Society of Human Genetics.