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Specialists dedicated to treating rare kidney diseases.

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Rare Kidney Diseases Treated at the UAB Rare Genetic Kidney Disease Clinic

The University of Alabama at Birmingham has special expertise in the evaluation and management of Rare Genetic Kidney disease. This clinic started due to a specific Rare Genetic Kidney disease called Fabry Disease. Fabry Disease affects 1:40,000 individuals. This clinic is one of the country’s largest Fabry Disease clinics and is unique in that it is led by nephrology. This clinic continues to participate in numerous clinical trials in Fabry Disease to further the goal of improving the lives of patients.

Due to the same approach learned when caring for patients with Fabry Disease, the clinic was expanded in 2020 to begin to care for patients with all types of genetic kidney disease. The UAB Rare Genetic Kidney Disease Clinic is focused on the diagnosis, screening, support, and treatment of patients with Rare Genetic Kidney disease.

We provide diagnosis and treatment for over 50 different genetic kidney diseases, with special focus on the following disorders:

  • Fabry Disease

  • Alport syndrome

  • Bartter syndrome

  • Branchio-oto-renal syndrome

  • Cystinosis

  • Familial kidney stone disease

  • Familial hypertension

  • Gitelman syndrome (familial hypokalemia-hypomagnesemia)

  • Hypokalemia (low potassium states)

  • Hypomagnesemia

  • Inherited FSGS syndromes

  • Medullary cystic kidney disease

  • Nephronophthisis

  • Nephrocalcinosis

  • Renal cysts and diabetes

  • Renal tubular acidosis

  • Vitamin D Resistant Rickets

  • Hypophosphatemia

We also offer a clinical evaluation and genetic counseling and testing for patients who carry a kidney disease gene:

  • Screening for family members at risk for any inherited kidney disease

  • Evaluation for possible genetic kidney disease for patients planning a kidney transplant

  • Counseling and testing living kidney donors for genetic kidney diseases

  • Coordinate therapies tailored to specific genetic diseases


Eric Wallace, M.D.
Director, UAB Rare Genetic Kidney Disease Clinic

Valerie Paige
Clinical Administrative Support Specialist