Comprehensive Care for Inherited Kidney Disease in Children
Genetic information is the body’s software or biological code. A missing gene in that code can harm kidney function and cause a variety of kidney disorders.
University Hospitals Rainbow Babies & Children's Hospital's Center for Children with Inherited Kidney Diseases offers direct access to leading pediatric genetics experts who remain focused on investigating genetic kidney problems. Our facility is uniquely equipped to diagnose and manage kidney diseases and kidney disorders, which are present at birth or become evident later in childhood.
The inherited kidney diseases we treat include
- Alport syndrome
- Bartter syndrome
- Nephrogenic diabetes insipidus
- Gitelman syndrome
- Polycystic kidney diseases (PKD): autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD)
- Liddle's syndrome
- Lowe syndrome
- Renal tubular acidosis
- Rare inherited stone disorders such as Dents disease
The Center for Children with Inherited Kidney Diseases is the only center of its kind in Northeast Ohio to offer all the benefits of the following:
- Fellowship-trained pediatric nephrologists who have broad experience in diagnosing and managing the most complex and rare inherited kidney problems in children
- Access to advanced genetics practice through the Center for Human Genetics, a joint venture of UH and Case Western Reserve University School of Medicine that provides specialized testing and genetic counseling for young patients and families at risk for genetic kidney problems
- Opportunities to participate in novel research studies, with a special focus on polycystic kidney disease (PKD)
Specialized Care for PKD
Our center provides advanced care for patients with PKD, a condition characterized by cysts that form in the kidney. These cysts cause the kidneys to enlarge and work inefficiently. In the most severe cases, the kidneys eventually shut down, requiring the patient to receive dialysis or a transplant.
As the most common type of inherited kidney disease, PKD appears in two major forms:
- Autosomal dominant polycystic kidney disease (ADPKD) affects approximately one in 500 individuals, and can present at any age from infancy through adulthood. Though it is life threatening, it can often be successfully managed over a lifetime, depending on the severity.
- Autosomal recessive polycystic kidney disease (ARPKD) is a relatively rare genetic disorder that affects one in 20,000 children. Most patients are diagnosed soon after birth. While it is a life-threatening condition, multidisciplinary care that includes neonatology support can help patients survive into childhood and adulthood.
UH Rainbow Babies & Children's Hospital is at the forefront of PKD diagnosis and treatment. With a high concentration of PKD cases each year, our nephrology team gains vital experience-based knowledge with each new diagnosis.
In addition, we have ongoing research studies focused on improving treatment for PKD.