Relevance of ultrasound examination in general practice. A case report of a patient with autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease is a genetic disorder which results in the development of multiple cysts in the kidneys and other parenchymal organs. The two genes in which mutations are known to cause autosomal dominant polycystic kidney disease are PKD1 and PKD2. Approximately 50% of individuals with autosomal dominant polycystic kidney disease will develop end-stage renal disease by the age of 60. Early stages of the disease are usually asymptomatic and at the moment of establishing a definitive diagnosis, complications and associated disorders, including end-stage renal disease, occur frequently. About 95% of individuals with autosomal dominant polycystic kidney disease have an affected parent and about 5% have a de novo mutation. Each child of an affected individual has a 50% chance of inheriting the mutation. The first symptoms of disease usually develop in the third or fourth decades of life. Imaging examinations of relatives at risk allow for an early detection when no clinical symptoms are present as well as enable treatment of complications and associated disorders. Ultrasound examination as a basic and minimally invasive imaging technique can be easily used in general practice. In the majority of patients with autosomal dominant polycystic kidney disease, sonography allows for a certain and reliable diagnosis of this disease. Additionally, it enables to perform follow-up examinations both of the patient and their family. The possibility of ultrasound imaging in general practice broadens clinical examination and facilitates establishing a proper diagnosis. The paper presents a case report of a patient with autosomal dominant polycystic kidney disease. Its aim was to present the relevance of ultrasound examination in general practice.