Polycystic Kidney Disease
Polycystic kidney disease affects the kidneys where cysts form in the kidneys leading to the enlargement of the kidneys affecting their function over time. The cysts fill up with fluid, which may lead to crushing of nearby normal tubules eventually affecting the function of the kidney (Cowley & Bissler, 2018). Polycystic kidney disease is a disease caused by an abnormality in the genome. This may imply that the disorder may be passed down in the family through the genes. This disease may affect an individual at different stages in their growth, which may include childhood, individuals in the adolescent stage, and full-grown adults (Cowley & Bissler, 2018). A positive family history or a physical examination may be used as a diagnosis of the disease. There is no current treatment to address the disease but there is medication to treat the symptoms, which can improve the health of the patient. This paper will analyze a case report of a patient with polycystic kidney disease (Cowley & Bissler, 2018).
Describe If Chromosomal Analysis Was Indicated
Chromosomal analysis includes the microscopic examination of chromosomes in dividing cells. This analysis is aimed at detecting any changes in the chromosomal structure, which can help determine any abnormalities in the chromosomes (Nussbaum, 2015). Chromosomal analysis was indicated which revealed that the polycystic kidney disease developed because of PKD1 gene mutations in chromosomes 16 and PKD2 gene mutations in chromosome 4 (Li, 2015). These genes can also be inherited through families and chances of developing this disease increase with a 50% probability if one parent has the disease. One in the two copies of the PKD1 or PKD2 gene is altered which leads to the development of the disease (Li, 2015). If the second copy of the gene mutates, it may lead to an increased development and severity of the disease. Genetic testing is conducted to determine any gene mutations, which cause the disease (Li, 2015).
The Causes of the Disorder
Polycystic kidney disease is caused by defects in the genes, which can happen in a parent who may pass the mutated gene to their offspring (Kimmel & Rosenberg, 2015). These abnormal genes are passed in families, which increases the chances of developing this disease if one of the parents has the disease. The polycystic kidney disease can happen to anyone regardless of their origin, race, or color (Kimmel & Rosenberg, 2015). The autosomal dominant polycystic kidney disease (ADPKD) is the most common type of polycystic kidney disease and is caused by genetic flaws, and only requires either of the parents to have the disease. This type of genetic flaw is the largest contributor in the development of the polycystic kidney disease (Kimmel & Rosenberg, 2015).
Signs and symptoms of autosomal dominant polycystic kidney disease can be detected between the age of 30 and 40 (Cowley & Bissler, 2018). The second type of polycystic kidney disease is the autosomal recessive polycystic kidney disease (ARPKD) which is caused by the transmission of mutated genes by both parents (Cowley & Bissler, 2018). This type of disease is not common, as it requires that both parents have the abnormal genes to be able to pass the disease to their offspring. This decreases the chances of transmitting the disease to their offspring by 25% (Cowley & Bissler, 2018).
The signs and symptoms of autosomal recessive polycystic kidney disease can be detected after birth or later in childhood development (Kimmel & Rosenberg, 2015). If these individuals have only one gene from one parent, they will not develop the disease but will be carriers of the mutated gene and can still transmit it to their off springs (Kimmel & Rosenberg, 2015). Acquired cystic kidney disease is also a type of polycystic kidney disease, which is acquired and not inherited like the other two types. This type of polycystic kidney disease occurs at an older age, which may be attributed to other kidney problems (Kimmel & Rosenberg, 2015).
Describe the Disorder In Terms Of Its Origin either As a Single Gene Inheritance, Or As a Complex Inheritance and Considerations for Practice and Patient Education
Polycystic kidney disease is caused by a single gene defect caused by individual mutant genes. The mutation happens in the PKD1 or PKD2 genes in a chromosome where a single gene carries the genetic information (Nussbaum, 2015). Most of the patients of polycystic kidney disease are born with one mutated gene of either the PKDI or the PKD2. One gene must be altered for an individual to develop the disease (Nussbaum, 2015). In autosomal recessive polycystic kidney disease, the individuals have a single gene from both parents while in autosomal dominant polycystic kidney disease, individuals have a single mutated copy of the gene from one of their parents (Nussbaum, 2015).
With the polycystic kidney disease as the most common inherited kidney disease in the world, supportive care should be administered as there is no available cure (Nussbaum, 2015). This may include the management of symptoms, which include pain, and urinary infections, which may be caused by the disease. Not all patients may use the same treatment process and therapy should be based depending on individual patients (Nussbaum, 2015). This will enable healthcare professionals to make informed decisions based on the progression and pattern of the development of the disease. Nephrologists should provide care to the patients in consideration of the present symptoms and complications of the polycystic kidney disease (Nussbaum, 2015).
Antibiotics can be offered to treat the cyst infection and renal infections, which may be caused by the disease (Nussbaum, 2015). A genetic test may also be used to diagnose the disease for patients who have presented symptoms related to the disease. Genetic testing can also be used to determine if other family members are at a risk of developing the disease by testing the presence of a mutation (Nussbaum, 2015). Healthcare providers can use the Genetic Testing Registry to get information about the genetic tests used to diagnose this disease and provide information to patients on the genetic test and other information related to the condition (Nussbaum, 2015).
Analyze the Gene Mutation of the Disease, As Well As Whether It Is Acquired or Inherited, and How the Mutation Occurs
The polycystic kidney disease is divided into two types depending on the genetic cause (Cowley & Bissler, 2018). The PKDI and PKD2 genes mutate causing the disease where type 1 polycystic kidney disease which is known as autosomal dominant polycystic kidney disease is caused by mutation of the PKD1gene (Cowley & Bissler, 2018). The PKD2 gene causes type 2 polycystic kidney disease, which is known as autosomal recessive polycystic kidney disease (Cowley & Bissler, 2018). These genes promote the development of proteins, which help the kidneys to function normally. When the PKD1 and PKD2 gene mutate, a large number of cysts is formed which affect the normal functioning of the kidneys and other body organs as well (Cowley & Bissler, 2018).
A large percentage of patients with the polycystic kidney disease are due to inheritance from their parents where an individual may acquire the disease from one of the parents or both of the parents through mutated genes (Kimmel & Rosenberg, 2015). The disease can also be acquired through infection by other kidney diseases through mutations of the PKHD1 gene resulting in acquired cystic kidney disease. The treatment process of the kidneys, which may include the process of dialysis, may cause these changes in one’s cells (Kimmel ; Rosenberg, 2015).
Cowley, B. D., ; Bissler, J. J. (2018). Polycystic kidney disease: Translating mechanisms into therapy. New York, NY: Springer.
Kimmel, P. L., ; Rosenberg, M. E. (2015). Chronic renal disease. San Diego, CA: Elsevier/AP, Academic Press is an imprint of Elsevier.
Li, X. (2015). Polycystic kidney disease. Brisbane, Australia: Codon Publications.
Nussbaum, R. L. (2015). Thompson ; Thompson genetics in medicine. St. Louis, Missouri: Elsevier.