Polycystic Kidney Disease (PKD) is a genetic condition that causes multiple fluid-filled cysts to develop in the kidneys, leading to kidney damage over time. In children, PKD may be present from birth or develop later in childhood. There are two main forms of PKD: autosomal dominant PKD (ADPKD) and autosomal recessive PKD (ARPKD).
While children with the more common autosomal dominant form of PKD may not experience severe kidney problems until later in life, it can impact them as adolescents. In contrast, autosomal recessive PKD often presents in infancy or early childhood and is associated with more severe kidney and liver involvement, potentially leading to life-threatening complications. As the cysts grow in size and number, they can increase blood pressure, impair kidney function and, in some cases, result in kidney failure. Early diagnosis and management are key to helping children with PKD manage their condition.
Types of PKD
There are two main inherited forms of PKD. Each has its own causes, symptoms and risk factors.
Autosomal Dominant PKD (ADPKD)
This form, which makes up roughly 90% of PKD cases, is inherited in an autosomal dominant manner. If one parent has ADPKD, their child has a 50% chance of inheriting the disease. Both males and females are equally affected. Though ADPKD often manifests in adulthood, it can appear as early as childhood. In some cases, there’s no family history due to a new genetic mutation. ADPKD symptoms may include:
Abdominal pain or mass
High blood pressure
Kidney stones
Urinary tract infections
Hematuria (blood in the urine)
Cysts in the liver and pancreas
Cardiovascular complications
Autosomal Recessive PKD (ARPKD)
This rare form of PKD is also genetic but follows an autosomal recessive inheritance pattern. Both parents must carry the abnormal gene, with a 25% chance per pregnancy for the child to inherit the condition. Symptoms often begin shortly after birth, with earlier onset leading to more severe outcomes. Signs of ARPKD may include:
High blood pressure
Frequent urinary tract infections
Frequent urination
Liver, spleen, and pancreas involvement
Diagnosing PKD
Diagnosing PKD involves a combination of family history, imaging tests, blood work, and in some cases, genetic testing. For ADPKD, doctors may use ultrasound or other imaging to detect cysts in the kidneys and other organs. For ARPKD, prenatal ultrasound can sometimes identify cysts before birth, and postnatal imaging is used to confirm the diagnosis.
Treatment Options for PKD
Currently there is no cure for PKD, but various treatments can help manage symptoms, prevent complications, and, in some cases, slow cyst growth.
Autosomal Dominant PKD: Treatment focuses on managing symptoms and preventing complications. Options include:
Blood pressure control
Reduce cyst growth
Pain management
Infection control
Lifestyle modifications
In advanced cases: Dialysis or kidney transplantation may be necessary if kidney failure occurs.
Autosomal Recessive PKD: Treatment is tailored based on the child’s specific symptoms and may include:
Blood pressure management
Hormonal therapy
Specialized interventions
Supportive care
In advanced cases: Dialysis or kidney transplantation for end-stage kidney disease.
Emerging research is also investigating gene-targeting therapies and other pharmacological interventions to prevent cyst growth and improve outcomes for individuals with PKD.
Living with PKD
People with PKD can live full lives by managing their symptoms and maintaining a healthy lifestyle. Regular check-ups and monitoring are essential for early detection and treatment of complications. Staying informed and connected with healthcare providers can make a significant difference, as can support from family and PKD support networks.
For those seeking specialized care, appointments can be made at Nationwide Children’s Hospital by calling (614) 722-6200 or toll-free at (877) 722-6220. Remember, early diagnosis and treatment are vital in managing PKD and living a healthy, fulfilling life despite the challenges of this genetic condition.
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Featured Expert
John David Spencer, MD
Nephrology & Hypertension
John David Spencer, MD, is chief of the Division of Nephrology and Hypertension, principal investigator in the Center for Clinical and Translational Research in the Abigail Wexner Research Institute at Nationwide Children's Hospital and an assistant professor of Pediatrics at The Ohio State University College of Medicine. Dr. Spencer's NIH-funded research focuses on defining the molecular mechanisms that regulate and prevent infections in the kidney and urinary tract, with an emphasis on the role that antimicrobial peptides play in maintaining sterility in the urinary tract.
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