UNC Kidney Center Genetics & Tubular Disorders Clinic
Contact Information
Location: ACC Building, 3rd floor Hours of Operation: Friday (monthly) 8:30 AM-12:00 PM Appointments: Phone: (919) 966-4615 Specify "Kidney Genetics Clinic"
Directors and Staff
Director: Amy Mottl, MD

About the Clinic... Given the increasing role of genetics in the diagnosis and care of kidney patients, the UNC Kidney Center will be opening a Kidney Genetics and Tubular Disorders Clinic beginning October 17th 2008.  It will be held monthly on Friday mornings 8:30-noon at the UNC ambulatory care center 3rd floor nephrology clinic.    Services provided by our genetics clinic will include adult and pediatric nephrologists, medical geneticists, molecular geneticists and certified genetics counselors.    Adult and pediatric patients as well as their families can be seen for education and counseling, diagnostic genetic testing and interpretation, and recommendations for future screening and treatment options.  Patients may be referred for a single consultation for patient education and assessment of the utility of genetic testing.  Alternatively, patients may continue to come for management of their genetic kidney disease by clinicians with knowledge and expertise in what are often rare disorders.

Reason for referral:

• Genetic testing for a wide variety of renal disorders.
• Risk assessment and counseling to patients with familial kidney disease considering pregnancy.
• Disease specific education regarding genetic risk, diagnostics and treatment options.
• Diagnostic information for patients with a potential familial kidney disease wanting/needing to avoid kidney biopsy.Information for clinicians when weighing the risks/benefits of immunosuppressant medication for the treatment of nephrotic syndrome/FSGS in children.
• Diagnostic information for patients and clinicians in the setting of electrolyte disturbances with potential genetic basis.

Conditions and suspected/confirmed disorders appropriate to our clinic:

• hematuria, proteinuria or decreased kidney function with a strong family history
• autosomal dominant polycystic kidney disease
• tuberous sclerosis
• medullary cystic kidney disease
• severe gout with decreased kidney function
• cystinuria
• Bartter’s/Gittelman’s Syndromes
• familial hypertension
• renal tubular acidosis/electrolyte disturbances of unknown cause
• nephrocalcinosis/recurrent kidney stones

 

For more information, or if you have any questions, please call Dr. Amy Mottl at 919-966-2561 ext. 304 or e-mail at amy_mottl@med.unc.edu

To learn more about chronic kidney disease, click here.