The kidney is an organ in our body that removes waste and balance fluids. Polycystic kidney disease is a disorder that causes many fluid-filled sacs to build up. Those sacs are called cysts, that ends up on the kidneys. When the fluid - filled cysts cover the whole kidney, it cause the kidney to become enlarged.The cysts can lead to kidney failure and development in other organs in the body, in most cases the liver as well.
Mode of Inheritance and Biological Mechanisms
Polycystic kidney disease is a disorder where scientist and doctors still do not understand. The gene of where the mutation occurs is found but the complete mechanisms that allows the disorder to manifested is still unknown.But there are two types of mode of inheritance of polycystic …show more content…
Autosomal dominant polycystic kidney disease is caused by mutations in the PKD1 and PKD2 gene. PKD1 is genetically heterogeneous. The PKD1 gene makes a protein called polycystin-1. Polycystin-1 is a protein in the kidney that is most effective before childbirth than in average adult kidneys. Polycystin-1 is a “transmembrane receptor-like protein of unknown function” (genetics book page 464). When polycystin-1 protein enter a kidney cell, one half would be inside the cell and the other would in the outer surface. When the protein is in that position it allows it to interact and receive signals with other proteins, fats, and carbohydrates that are outside the cell. Polycystin-1 and polycystin-2 helps with the development of the kidney and its function. “PKD2 encodes polycystin 2, and integral membrane protein with homology to the voltage- activated sodium and calcium a1 channels” (Thompson & Thompson, 2007). The PKD2 gene makes the protein polycystin-2, which is regulated by polycystin-1. When polycystin-1 interacts with polycystin-2 it instructs the cell to undergo chemical reactions inside the cell. Polycystin-2 channels the transportation of charged atoms, and calcium ions in …show more content…
ESRD (end stage renal disease) is also one of the early diagnosis linked with ADPKD. PKD1 is more a severe disease than PKD2 gene, but PKD2 is more severe in men than in women. Having a mutation in both PKD1 and PKD2 does not mean it is lethal. In a journal it states a case that “One family with bilineal inheritance of PKD1 and PKD2 showed that co-inheritance of a mutation in both genes is not lethal, but it did seem to be associated with more severe disease than that found with either disease alone in the family”(Rossetti & Harris, 2007). Typical diagnosis starts with genetic testing with people who has ADPKD, because of their family genetic history it would reveal large kidneys due to multiple bilateral cysts by an MRI. In situations where the individual doesn’t have a family history of ADPKD certain criteria are brought up to question. Such as age, presence of any manifestations, and deeper search of family history leading to other genetic disorder that may be linked to ADPKD. “Genetic testing is also useful in the diagnosis of sporadic PKD with no family history or PKD with syndromic features”(Autosomal Dominant Polycystic Kidney Disease: Core Curriculum 2016). Those with no family history of PKD but has PKD are known to actually have acquired
Mode of Inheritance and Biological Mechanisms
Polycystic kidney disease is a disorder where scientist and doctors still do not understand. The gene of where the mutation occurs is found but the complete mechanisms that allows the disorder to manifested is still unknown.But there are two types of mode of inheritance of polycystic …show more content…
Autosomal dominant polycystic kidney disease is caused by mutations in the PKD1 and PKD2 gene. PKD1 is genetically heterogeneous. The PKD1 gene makes a protein called polycystin-1. Polycystin-1 is a protein in the kidney that is most effective before childbirth than in average adult kidneys. Polycystin-1 is a “transmembrane receptor-like protein of unknown function” (genetics book page 464). When polycystin-1 protein enter a kidney cell, one half would be inside the cell and the other would in the outer surface. When the protein is in that position it allows it to interact and receive signals with other proteins, fats, and carbohydrates that are outside the cell. Polycystin-1 and polycystin-2 helps with the development of the kidney and its function. “PKD2 encodes polycystin 2, and integral membrane protein with homology to the voltage- activated sodium and calcium a1 channels” (Thompson & Thompson, 2007). The PKD2 gene makes the protein polycystin-2, which is regulated by polycystin-1. When polycystin-1 interacts with polycystin-2 it instructs the cell to undergo chemical reactions inside the cell. Polycystin-2 channels the transportation of charged atoms, and calcium ions in …show more content…
ESRD (end stage renal disease) is also one of the early diagnosis linked with ADPKD. PKD1 is more a severe disease than PKD2 gene, but PKD2 is more severe in men than in women. Having a mutation in both PKD1 and PKD2 does not mean it is lethal. In a journal it states a case that “One family with bilineal inheritance of PKD1 and PKD2 showed that co-inheritance of a mutation in both genes is not lethal, but it did seem to be associated with more severe disease than that found with either disease alone in the family”(Rossetti & Harris, 2007). Typical diagnosis starts with genetic testing with people who has ADPKD, because of their family genetic history it would reveal large kidneys due to multiple bilateral cysts by an MRI. In situations where the individual doesn’t have a family history of ADPKD certain criteria are brought up to question. Such as age, presence of any manifestations, and deeper search of family history leading to other genetic disorder that may be linked to ADPKD. “Genetic testing is also useful in the diagnosis of sporadic PKD with no family history or PKD with syndromic features”(Autosomal Dominant Polycystic Kidney Disease: Core Curriculum 2016). Those with no family history of PKD but has PKD are known to actually have acquired