Assignment 1-Polycystic Kidney Disease

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1 Assignment 1: Polycystic Kidney Disease Zeleria Jackson University of Florida GMS 6401: Medical Renal Physiology Jaya Kolli, M.D. October 29, 2023
2 Polycystic kidney disease (also known as PKD) is a hereditary illness characterized by the formation of many fluid-filled cysts in the kidneys (NKF, 2023; NIDDK). Unlike simple kidney cysts, which are normally benign and can occur later in life, PKD cysts can modify the structure of your kidneys, including making them considerably bigger (NIDDK). Ultimately, PKD is a variant of chronic kidney disease (CKD) that causes kidney function to decline and may eventually lead to renal failure (NIDDK). PKD affects around 600,000 people in the United States and is the fourth major cause of kidney failure (NKF, 2023). Globally, PKD affects individuals of all ages, races, and ethnicities (NKF, 2023). Additionally, the condition affects both males and females equally (NKF, 2023). The disease's autosomal dominant variant is far more frequent than its autosomal recessive version (MedlinePlus). The autosomal dominant type (ADPKD) affects 1 in 500-1,000 people, while the autosomal recessive type (ARPKD) affects 1 in 20,000-40,000 people (MedlinePlus). ADPKD is frequently referred to as "adult PKD" since symptoms typically manifest and are then diagnosed between the ages of 30 and 50 (NIDDK; Pope, 2012). On the other hand, due to its early diagnosis, ARPKD is frequently referred to as "infantile PKD” (NIDDK).ARPKD can result in impaired kidney function in a developing child, resulting in breathing issues that endanger its survival (NIDDK). Within the first week of life, over 30% of neonates with ARPKD tragically pass (NIDDK; Guay-Woodford & Desmond, 2003). While gene mutations account for the majority of instances of PKD, in other instances the disease can be acquired (MedlinePlus). Renal failure and dialysis are frequently linked to acquired polycystic kidney disease (ACKD) because it can occur in kidneys that have sustained significant damage over time which resulted in extensive scarring (NKF, 2023). Approximately 90% of dialysis patients acquire ACKD after 5 years (NKF, 2023). Most often, hematuria is the
3 main symptom/cause for concern in patients with ACKD (NKF, 2023). This occurs as a result of the cysts bleeding into the urinary system and discoloring the urine (NKF, 2023). The etiology of PKD is mutations in the PKD1 , PKD2 , and PKHD1 genes (MedlinePlus). Currently, there are over 250 identified PKD1 gene mutations that contribute to 85% of ADPKD cases ( PKD1 gene ). Mutations in the PKD1 gene (located on chromosome 16) include changes to one or more base pairs (deletions or insertions) ( PKD1 gene ). An unusually tiny, nonfunctional variant of the polycystin-1 protein is expected to result from the majority of PKD1 mutations ( PKD1 gene ). While the exact mechanism by which a deficiency of polycystin-1 causes cysts is unknown, it most likely interferes with the protein's signaling role in primary cilia and throughout the cell ( PKD1 gene ). This can cause aberrant cell growth and division in the renal tubule lining, which can result in the development of cysts ( PKD1 gene ). Similarly to PKD1 mutations, PKD2 mutations cause signaling interference between the cell, cilia, and polycystin-1 ( PKD2 gene ). These gene mutations also result in a dysfunctional variant of the polycystin-2 protein which leads to the cyst proliferation that occurs on the kidneys ( PKD2 gene ). At the moment, there have been over 75 identified PKD2 gene (located on chromosome 4) mutations that contribute to the remaining 15% of ADPKD cases ( PKD2 gene ). Similar PKHD1 gene mutations occur in the recessive version of PKD (ARPKD), the more severe version of the condition that generally manifests itself at birth or in early childhood ( PKHD1 gene ). Alterations of base pairs in the PKHD1 gene (located on chromosome 6) result in the fibrocystin protein being either produced in an abnormally tiny, nonfunctional form or its normal structure and function are disrupted ( PKHD1 gene ). Nonetheless, these irregularities manifest into cysts that strip the kidneys of their essential functions ( PKHD1 gene ). Surprisingly
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