Never heard of Primary distal renal tubular acidosis (primary dRTA)? You’re not alone! This rare genetic condition results in problems with kidney function, bone formation, hearing, and managing potassium, calcium, and pH levels in the body. In honor of our new content addition, we wanted to take a moment to tell you more about this condition and share resources to those who may be caring for or living with someone diagnosed with the condition.
Signs and Symptoms for Primary dRTA
The symptoms of primary dRTA most often appear in babies; however there are rarer forms that start in older children and adults. In 2018, there are no states doing automatic testing of newborns or newborn screenings for primary distal renal tubular acidosis (primary dRTA). However, if a doctor is suspicious that a newborn may be showing signs of primary dRTA the baby can be tested.
The first signs of primary dRTA are problems eating, problems gaining weight (failure to thrive), frequent urination, extreme thirst, weakness, dehydration, and extreme tiredness. These signs are directly related to having blood with a low pH levels (a medical condition called metabolic acidosis). Other early signs may be bowing of lower leg bones or hearing loss. Hearing loss in primary dRTA can occur in infancy or later in life. It usually affects both ears and gradually gets worse. Infants and children may also be diagnosed with rickets and have weak soft bones that result in bowing of the lower legs.
All of these health problems occur because the kidneys are unable to manage the body’s pH levels. Specifically, the kidneys can’t filter out acidic compounds into urine to move them out of the body. If the kidney is unable to send those acidic compounds out of the body, then they stay in the blood, raise its pH level, and cause metabolic acidosis. Early recognition and treatment of primary dRTA can treat this underlying problem and avoid many of the health issues seen in untreated primary dRTA.
Clinical Trials for Primary dRTA
As of November 2018, there is one clinical trial listed on Clinicaltrials.gov sponsored by Advicenne Pharma for primary distal renal tubular acidosis. This study is examining the safety and effectiveness of an extended release form of alkali therapy (ADV7103) in maximizing alkali therapy over a 12-hour period and decreasing treatment to twice a day. If future clinical trials occur, they must be registered on clinicaltrials.gov too. Individuals interested in participating in clinical research studies should visit the site regularly, as studies can appear or change enrollment status frequently. Antidote also offers a handy tool to find clinical trials.
Advocacy and Support Groups for Primary dRTA
At this time, there is not a formal international or United States based support and advocacy group for primary distal renal tubular acidosis (primary dRTA). However, there are several Facebook pages focused on Primary dRTA such as the ATP6V1B1 Renal Tubular Acidosis Kids With Hearing Loss Page, Renal Tubular Acidosis Page, and Parents of Children with Renal Tubular Acidosis. In addition, there are other support groups focused on specific symptoms of primary dRTA such as hearing loss and kidney (renal) disease. Examples of those include: The National Kidney Foundation and My child without limits.
We encourage you to check out the new content for Primary Distal Renal Tubular Acidosis (dRTA) and share your thoughts with us. Please also take a moment to share the content with your friends, family or support groups. Together, we can bring about greater awareness of dRTA.
ThinkGenetic was able to create this new unbiased content to the public for free because of wonderful sponsors who believe in the importance of education around dRTA. ThinkGenetic helps individuals harness their personal power of advocacy by offering trustworthy information to guide them to the help they need, faster. Our team strives to create, update, and review content regularly to ensure the information we provide is accurate, referenced, and available 24/7 to anyone searching for answers about their genetic condition. If you are interested in sponsoring the creation of content by our medical team, please contact us.