Primary Distal Renal Tubular Acidosis
What are the signs and symptoms of primary distal renal tubular acidosis?
The typical signs and symptoms of primary distal renal tubular acidosis (primary dRTA) include sensorineural (inner ear) hearing loss, problems with kidney function, low blood pH levels (metabolic acidosis), low blood potassium, and problems with bone formation. However, the onset of symptoms can occur in infancy until adulthood and the existence of specific health problems vary from person to person. For example, most individuals with primary dRTA caused by changes in the SLC4A1 gene do not have hearing loss while 92% of people with disease causing changes in the ATP6V1B1 gene have hearing loss.
The most frequent signs of primary dTRA include:
- Poor feeding
- Problems gaining weight (failure to thrive)
- Frequent urination
- Extreme thirst
- Extreme tiredness
- Low potassium levels
- Weak, soft bones with bowing of the lower legs (rickets)
- Hearing loss
These health problems are occurring because the kidneys are unable to filter out specific substances called acidic compounds out of the body. If the kidney doesn't send those acidic compounds out of the body in the urine, then they go back into the blood. This makes the blood too acidic leading to a condition called metabolic acidosis.
Rarely, individuals with primary dRTA can also have episodes of extreme muscle weakness (hypokalemic paralysis) caused by low blood levels of potassium (hypokalemia).
Individuals with primary dRTA may present with different symptoms, and not every person will have hearing loss or problems in childhood.
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
Soriano, JR. Renal Tubular Acidosis: The Clinical Entity, JASN Aug 2002, 13 (8) 2160-2170; DOI: 10.1097/01.ASN.0000023430.92674.E5
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