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The roles of cilia in developmental disorders and disease. Hum Genet. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome Rev Cubana Invest Biomed. Kidney Int. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.

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Autosomal dominant polycystic kidney disease ADPKD , also sometimes more vaguely referred to as "adult polycystic kidney disease", is as the name would suggest, a hereditary form of adult cystic renal disease. The kidneys are normal at birth, and with time develop multiple cysts. That figure increases over time, such that essentially all patients eventually demonstrate cystic change. The risk of renal cancer is not increased. Macroscopically the kidney demonstrates a large number of cysts of variable size from a few mm to many cms , in both the cortex and medulla.

They are filled with fluid of variable color from clear or straw colored to altered blood or chocolate colored to purulent when infected.

The majority of cases are inherited in an autosomal dominant fashion. In a minority of cases, no family history is present, and the disease is due to a spontaneous mutation 1. The defect results in cystic dilatation of the renal tubules of all parts of the nephron in a minority of nephrons. The cysts are variable in size and result in compression of the remainder of the kidney, resulting in increased renin and erythropoietin secretion, and gradual renal dysfunction.

Imaging of patients with autosomal dominant polycystic kidney disease can be challenging, simply due to the size and number of the cysts and associated mass effect on adjacent structures. It is potentially tedious, but necessary, to assess all cysts for atypical features, that may reflect complications e. The diagnosis may be suspected when the renal outlines are enlarged, multilobulated or difficult to discern, with associated displacement of loops of bowel. Ultrasound is an excellent choice for repeated imaging as it is fast, relatively inexpensive and lacks ionizing radiation.

It is able both to suggest the diagnosis and to assess for cyst complications. Simple renal cysts will appear anechoic with well-defined imperceptible walls, posterior acoustic enhancement amplification and lateral shadowing extinction 3. Cysts with hemorrhage or infection will demonstrate echogenic material within the cyst, without internal blood flow.

Calcification may develop. Renal cell carcinomas in contrast, although usually cystic in the setting of ADPKD, will have solid components of thick septa with blood flow. Perinephric hematomas may be visible and collections of variable echogenicity surrounding the kidney. CT is of course very sensitive to the diagnosis and excellent at characterizing renal cysts. The wall is very thin and regular, and are often imperceptible.

A complex cystic mass with solid components or thick septa which enhance should be viewed with suspicion, and presence of a renal cell carcinoma RCC suspected see Bosniak classification of renal cysts. Renal cysts appear morphologically the same as on CT, rounded well-defined structures with very thin regular walls 8. Unlike in some other congenital cystic kidney diseases, there is no increased risk for renal cell carcinoma RCC unless the patient is undergoing prolonged dialysis Please Note: You can also scroll through stacks with your mouse wheel or the keyboard arrow keys.

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On this page:. Quiz questions. Read it at Google Books - Find it at Amazon. Related Radiopaedia articles Renal cystic disease Bosniak classification simple renal cyst polycystic disease autosomal dominant polycystic kidney disease ADPKD autosomal recessive polycystic kidney disease ARPKD acquired renal cystic disease multicystic dysplastic kidney lithium-induced renal disease.

Edit article Share article View revision history Report problem with Article. URL of Article. Article information. System: Urogenital. Tag: kidney. Support Radiopaedia and see fewer ads. Cases and figures. Figure 1: gross pathology 1 Figure 1: gross pathology 1.

Case 1 Case 1. Figure 2: gross pathology 2 Figure 2: gross pathology 2. Case 2 Case 2. Case 3 Case 3. Case 4 Case 4. Case 5 Case 5. Case 6 Case 6. Case 7 Case 7. Case 8 Case 8. Case 10 Case Case 13 Case Case 14 Case Case 15 Case Case 16 Case Case 17 Case Case 18 Case Case 20 Case Case 21 Case Loading more images Close Please Note: You can also scroll through stacks with your mouse wheel or the keyboard arrow keys. Loading Stack - 0 images remaining. By System:. Patient Cases. Contact Us.

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Overview of Autosomal Dominant Polycystic Kidney Disease in the South of Spain

Introduction: Although autosomal dominant polycystic kidney disease is the most common hereditary kidney disease, available data tend to be limited to after initiation of renal replacement therapy. Objective: To ascertain an overview of autosomal dominant polycystic kidney disease within the health area of Granada in southern Spain. Material and methods: From January to December , we collected clinical, family and demographic information about all patients with autosomal dominant polycystic kidney disease, irrespective of whether or not they were treated with RRT, in the Granada health area. The computer software SPSS Results: The geographical distribution was heterogeneous. There was no family history in 2.

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2010, Número 3

Albandea Moreno, V. Aguilar Urbano, F. Service of Digestive Diseases. Hospital Costa del Sol. A year-old man had an asymptomatic elevation of cytolysis-related enzymes, GGT, and alkaline phosphatase, detected at a routine laboratory study. The patient reported no alcohol abuse, no history of liver disease, and no constitutional syndrome.

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