Definition
The definition of ADPKD depends on the age of the individual being screened. In adults, the diagnosis requires documentation of three or more renal cysts, bilateral talks with the participation of renal parenchyma. For children who are at risk, the presence of at least two unilateral or bilateral renal cysts is indicative of the disease. Although the fault is in the kidneys, the involvement of the liver, colon, heart and cerebral vasculature is frequent.
Genetic Influence
The autosomal dominant transmission of the PKD was identified in 1957, but it was not until 1985 that the gene has been identified. Approximately 95 percent of all cases are related to ADPKD1 whites on the short arm of chromosome 16. A second gene has recently been identified on chromosome. Prenatal diagnosis is possible by DNA analysis of tissues obtained by amniocentesis or chorionic villus sampling.
Clinical presentation
Severity of the disease varies among those affected. Pain in the side of the abdomen or is a frequent complaint, occurring in about 60 percent of patients. The pain can be acute or chronic. The sudden onset of pain may be secondary to bleeding from a cyst infection or calculation.
In 35 percent of patients with hematuria is the complaint. Gross and microscopic hematuria finally occurs in 50 percent of patients.
Compile and re-written based on article by Diane K. Beebe