UNC Kidney Center Genetics and Tubular Disorders Clinic Opens ...Document Transcript
UNC Kidney Center
Genetics and Tubular Disorders Clinic
Opens October 17 2008
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 17 2008. It will be held monthly on Friday mornings 8:30noon at the UNC
ambulatory care center 3 floor nephrology clinic. Services provided by our genetics clinic will
include adult and pediatric nephrologists, medical geneticists, molecular geneticists and certified
Appointments can be made by calling the Nephrology Clinic at 9199664615 and
specifying that the appointment is for the Kidney Genetics Clinic.
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.
Reasons for referral:
· Genetic testing for a wide variety of renal disorders.
· Risk assessment and counseling to patients with familial kidney disease considering
· 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
· 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 9199662561 ext.304 or email at email@example.com