Primary Distal Renal Tubular Acidosis


How do I find a center of excellence in primary distal renal tubular acidosis?

Centers of Excellence for a rare genetic disease like primary distal renal tubular acidosis (primary dRTA) are rare, but can often be found by looking to see who is participating in clinical trials. Typically, a doctor who is doing research in primary dRTA will have a deeper and more thorough understanding of the genetic condition and may know where other doctors familiar with caring for and treatment primary dTRA can be found. One example of a key investigator in primary dRTA is Laurence Greenbaum, MD, Ph.D at Emory University website.

Another way to find a Center of Excellence in primary dRTA is by talking to others living with primary dRTA. One place to find caregivers and people living with primary dRTA is the ATP6V1B1 Renal Tubular Acidosis Kids With Hearing Loss Facebook page.

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What specialist doctors should I see with primary distal renal tubular acidosis?

What specialist doctors should I see with primary distal renal tubular acidosis?

Primary distal renal tubular acidosis (dRTA) affects the function of several body systems and accordingly, people living with dRTA are monitored by several specialist doctors as appropriate for their disease symptoms. A kidney doctor (nephrologist), plays a key role in the management of patients living with primary distal renal tubular acidosis. Importantly, a pediatric nephrologist, a pediatrician with specialty training in the kidney should be a part of your child's care. Additionally, key doctors to see include:

  • primary care doctors (pediatricians, family medicine, internal medicine)
  • kidney specialists (nephrologists)
  • hearing specialists (audiologists)
  • hormone specialists (endocrinologists)
  • digestive specialists (gastroenterologists)
  • genetic specialists (medical geneticists/genetic counselors)
  • Swayamprakasam, A. P., Stover, E., Norgett, E., Blake-Palmer, K. G., Cunningham, M. J., & Karet, F. E. (2010). Importance of early audiologic assessment in distal renal tubular acidosis. International medical case reports journal, 4, 7-11. doi:10.2147/IMCRJ.S13667
  • Genetics Home Reference, renal tubular acidosis with deafness, published 10/23/2018

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