Apr. 16, 2019
Posted by Lisa Sencen
NORD has published a report in its Rare Disease Database on primary distal renal tubular acidosis (dRTA), a rare genetic disorder that affects the ability of the kidneys to remove acid from the blood. It is caused by a mutation in one of at least three different genes resulting in a faulty, inefficient, absent or overproduced protein.
The Rare Disease Database is a unique educational resource for patients and caregivers that NORD has maintained for more than 30 years. It is the first stop for more than 80% of the approximately one million visits to the NORD website each month.
NORD’s reports are overviews of specific rare diseases covering causes, signs & symptoms, affected population, related disorders, standard and investigational therapies, and resources, including patient organizations.
Currently, there are more than 1,200 reports in the database. New topics are frequently added and existing reports are constantly being reviewed and updated. Before a new report can be published or an existing one updated, it must be reviewed by a medical professional with expertise on the topic.
Daniel Batlle MD, of the Northwestern University Feinberg School of Medicine, served as medical reviewer for the dRTA report. Dr. Batlle is Earle, del Greco Levin Professor of Nephrology/Hypertension, Professor of Medicine, in the Feinberg School of Medicine Division of Nephrology/Hypertension.
Primary distal renal tubular acidosis is a highly variable disorder. Some individuals may only have slightly elevated acid levels and no accompanying symptoms. Some have only small kidney stones. However, the disorder can cause severe complications, often during infancy, if unrecognized and untreated.
The dRTA report was made possible by a donation from Advicenne. The content of NORD’s rare disease reports is developed solely by the NORD editorial team and independent medical experts.