Primary Distal Renal Tubular Acidosis
What is primary distal renal tubular acidosis?
Primary distal renal tubular acidosis (primary dRTA) is a rare genetic condition that results in problems with kidney function, bone formation, hearing, and managing potassium, calcium, and pH levels in the body. The symptoms of primary dRTA most often appear in babies; however there are rarer forms that start in older children and adults.
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, lower 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.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/primary-distal-renal-tubular-acidosis-109939/overview/66965 • DATE UPDATED: 2019-02-18
Genetics Home Reference, renal tubular acidosis with deafness, published 10/23/2018 https://ghr.nlm.nih.gov/condition/renal-tubular-acidosis-with-deafness#sourcesforpage
Orphanet, autosomal recessive distal renal tubular acidosis, https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=402041
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