What is Polycystic Kidney Disease (PKD)?
Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous fluid-filled cysts in the kidneys. These cysts can impair kidney function and potentially lead to kidney failure. PKD can also cause cysts in the liver and complications in other organs, such as the heart and blood vessels in the brain.
Rady Children’s Comprehensive Kidney Care Center provides specialized care for children and young adults up to 21 years of age with kidney disease. Our commitment to excellence is demonstrated through a full spectrum of multidisciplinary services tailored to meet the unique needs of pediatric patients. From prenatal counseling and initial diagnosis to renal replacement therapy and beyond, our multidisciplinary team ensures comprehensive care every step of the way.
Types of Polycystic Kidney Disease PKD
Inherited Forms
- Autosomal Dominant Polycystic Kidney Disease (ADPKD)
- Prevalence: The most common inherited form, making up about 90% of PKD cases.
- Inheritance: If one parent has ADPKD, there is a 50% chance of passing it to a child. It affects both genders equally.
- Symptoms: Symptoms usually appear between ages 30 and 40 but can begin in childhood. They include abdominal pain, high blood pressure, kidney stones, and more.
- Autosomal Recessive Polycystic Kidney Disease (ARPKD)
- Prevalence: A rarer form, resulting from mutations inherited from both parents.
- Inheritance: Carrier parents have a 25% chance of having a child with ARPKD.
- Symptoms: Symptoms can appear before birth and include high blood pressure, frequent urination, low blood cell counts, and respiratory problems. Severity varies based on the age of onset.
- Other Inherited Forms of Polycystic Kidney Disease
- Genetic Testing: With access to Polycystic Kidney Disease gene panels, our team will help to determine if your child has one of the other lesser known forms of inheritable PKD.
Non-Inherited Form
- Acquired Cystic Kidney Disease (ACKD)
- Nature: Not inherited. Often develops in individuals with long-term kidney problems, particularly those on dialysis.
- Onset: Usually occurs later in life and can involve cysts in other organs such as the liver and pancreas.
Diagnosis of Polycystic Kidney Disease (PKD)
Diagnosing polycystic kidney disease typically involves a combination of imaging studies, laboratory studies (bloodwork and urine sample) and a medical history review:
Imaging
- Ultrasound: Utilized to visualize cysts in the kidneys and other organs.
- CT Scan or MRI: Provides detailed images for accurate diagnosis and assessment of cysts’ size and distribution. Allows for total kidney volume assessment, an important prognostic tool for treatment.
- Advanced 3-D Imaging: Access to 3-D imaging modality may be utilized for more accurate assessment of total kidney volume.
Family History
- Reviewing the family medical history is crucial, especially for autosomal dominant PKD (ADPKD), as it is hereditary. Genetic testing may be recommended, particularly if there’s a family history of PKD. A genetic counselor is available in clinic to discuss options for genetic testing (if necessary).
- Genetic Testing: If genetic testing is completed, our genetic counselor will review results in detail and educate patient and family members regarding complications and risks of particular genetic result.
Treatment Options for PKD
The management of PKD aims to alleviate symptoms, slow disease progression, and improve quality of life. Treatment options depend on the type of PKD and its severity:
ADPKD (Autosomal Dominant PKD)
- High Blood Pressure: Medications are prescribed to control blood pressure, which is commonly elevated in ADPKD.
- Urinary Tract Infections (UTIs): Antibiotics are administered to treat and prevent urinary tract infections, a common complication.
- Proteinuria (protein losses in the urine): If proteinuria is present, medications are prescribed to reduce protein losses in the urine.
- Advanced Care: In cases of significant kidney failure, advanced treatment options such as dialysis or kidney transplantation may be necessary.
ARPKD (Autosomal Recessive PKD)
- High Blood Pressure: Medications are used to manage hypertension.
- Urinary Tract Infections (UTIs): Antibiotics are prescribed to treat UTIs.
- Proteinuria (protein losses in the urine): If proteinuria is present, medications are prescribed to reduce protein losses in the urine.
- Additional Therapies: Depending on disease severity, additional treatments such as hormonal therapy, dialysis, or kidney transplantation may be considered.
Specialized Pediatric Care at Rady Children’s Hospital
At Rady Children’s Hospital, we provide comprehensive care for children with PKD through our dedicated nephrology team. Our services include:
- Prenatal Consultations: Offering expert advice and monitoring for expectant parents whose babies are diagnosed with kidney cysts via prenatal ultrasounds.
- Pediatric Dialysis Unit: Providing specialized dialysis care tailored to the needs of children.
- Kidney Transplant Program: One of the most advanced pediatric kidney transplant programs, offering cutting-edge treatments and comprehensive post-transplant care.
- Collaborative Care: Working closely with genetic counselors and adult nephrology specialists to ensure seamless transition and ongoing care as children grow into adulthood.
Recognition and Designation
Rady Children’s Hospital is proud to be designated as a Pediatric Clinic by the PKD Foundation. This designation recognizes our commitment to providing outstanding care and advancing research for children with polycystic kidney disease.
Support and Resources
- PKD Foundation: Engaging with the PKD Foundation for access to research, education, and support networks.
- Community Support: Connecting families with support groups and resources to navigate the challenges of PKD.
Why Choose Rady Children’s Hospital?
- Expertise and Experience: Our pediatric nephrologists have vast experience diagnosing and treating polycystic kidney conditions in children.
- State-of-the-Art Care: We utilize the latest advancements in medical technology and treatment protocols to provide the best possible outcomes.
- Comprehensive Approach: From initial diagnosis through treatment and follow-up care, our multidisciplinary team is dedicated to supporting our patients and their families every step of the way.
Rady Children’s Hospital’s Institute of Genomic Medicine
The Institute of Genomic Medicine at Rady Children’s Hospital plays a crucial role in advancing our understanding and management of Polycystic Kidney Disease (PKD). Through cutting-edge genomic sequencing technologies and data analysis, the institute can identify genetic mutations associated with PKD, providing rapid and accurate diagnosis for patients and their families. This enables clinicians to offer personalized treatment plans tailored to the underlying genetic factors contributing to PKD. Furthermore, the institute’s research efforts contribute to the ongoing discovery of novel genetic pathways involved in PKD development, paving the way for the development of targeted therapies and interventions. By integrating genomic medicine into the care of PKD patients, the Institute of Genomic Medicine at Rady Children’s Hospital is at the forefront of improving outcomes and advancing our knowledge of this complex genetic disorder.
Contact
For more information or to schedule a consultation, please contact Rady Children’s Hospital’s Nephrology Department.