Polycystic+kidney+disease

Polycystic Kidney Disease

Who was it first discovered by?: Polycystic Kidney Disease really does not have a one true founder. Many people dating back to the 1800s have known what this syndrome was just by a quick examination. However, the term "polycystic kidney" was used for the first time in 1888 by Flix Lejars, after observing the King of Poland die from it.



Symptoms: There are many symptoms that lead up to the Polycystic Kidney. Some which are high blood pressure, back pain, headache, kidney failure, urine in the blood, and many other symptoms. Symptoms usually begin between the ages of 30 or 40. The symptoms are treatable with various types of medicines. The two most common environmental factors that can awaken the PKD symptoms are the cold or for females, during pregnancy.



Inheritance Pattern: The disease can be autosomal dominant or autosomal recessive, but the most common is autosomal dominant.

Is it common? Yes, in fact this disease is the most common hereditary disease in the United States. It appears more frequently in the male population of the U.S, but can happen in females as well.

Diagnosis: The doctor may use imaging tests to look for cysts of the kidney, liver, and other organs. Imaging tests used to diagnose PKD include: Abdominal ultrasound. This noninvasive test uses sound waves to look at your kidneys for cysts.

Chromosome responsible: Most cases of polycystic kidney disease have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the PKD1 or PKD2 gene in each cell. In about 90 percent of these cases, an affected person inherits the mutation from one affected parent. Approximately 85 percent of families with autosomal dominant polycystic kidney disease (ADPKD) have a mutation in the PKD1 gene, located on chromosome 16; these people have PKD1 disease. The remaining 15 percent have a mutation in the PKD2 gene on chromosome 4; this is called PKD2 disease.



Sources: [|www.mayoclinic.org] [|www.healthline.com] [|www.kidney.org] Ghr.nlm.nih.gov