Autosomal Recessive Polycystic Kidney (ARPKD) is a rare, genetic disorder characterized by the development of multiple fluid-filled cysts in the kidneys. It is referred to as "autosomal recessive" as the condition occurs due to mutations in both copies of a specific gene, and both parents must be carriers of the gene mutation for the child to be affected.
The primary manifestation of ARPKD is the enlargement of the kidneys due to the formation of countless cysts within the organ. These cysts can impair kidney function, leading to complications such as high blood pressure, urinary tract infections, kidney stones, and renal failure. In some cases, the liver may also be affected, with cysts developing in this organ as well.
ARPKD typically presents in infancy or early childhood. Its symptoms may include abdominal swelling, difficulty feeding, frequent urination, blood in urine, and occasionally, high blood pressure. Due to the severity and potential complications associated with ARPKD, early diagnosis and management are crucial for improved long-term outcomes.
Treatment for ARPKD primarily focuses on addressing the associated complications and providing supportive care. Depending on the individual's specific needs, interventions may involve medication to control blood pressure, dietary modifications to manage kidney function, dialysis in cases of renal failure, or ultimately, kidney transplantation.
Overall, Autosomal Recessive Polycystic Kidney is a genetic disorder characterized by the development of multiple cysts in the kidneys, leading to kidney dysfunction and potential liver involvement.
