Renal tubular acidosis (RTA) [29 genes]

Renal tubular acidosis is characterized by the presence of normal anion gap metabolic acidosis due to decreased renal bicarbonate reabsorption and/or decreased hydrogen ion excretion. There are also presentations where
the patient’s acid-base balance is normal under physiological conditions. It can occasionally be associated with the development of renal lithiasis. Four types of RTA have been described: distal (type 1), proximal (type 2), mixed (type 3), and hyperkalemic (type 4). It may have a syndromic presentation: with sensorineural hearing loss (type 1); eye
abnormalities (type 2); Fanconi syndrome (type 2); and osteopetrosis, brain calcifications, nephrocalcinosis, facial dysmorphism, conductive hearing loss, and cognitive deficit (type 3).

  • Normal anion gap metabolic acidosis
  • Hipokalemia (except in type 4)
  • Hypercalciuria, nephrocalcinosis, nephrolithiasis (types 1 and 3)
  • Inappropriately alkaline urine (type 1)
  • Growth retardation

Prevalence: Unknown

  • Alkaline therapy
  • Nephrocalcinosis and nephrolithiasis prevention
  • Correction of electrolytic alterations
  • Genetic counseling

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Renal tubular acidosis (RTA)

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202008439

Renal tubular acidosis (RTA): View panel
  • ATP6V0A4
  • ATP6V1B1
  • ATP6V1C2
  • CA2
  • CLCN7
  • CLDN16
  • COQ6
  • CTNS
  • CUL3
  • EHHADH
  • FN1
  • FOXI1
  • HNF4A
  • KLHL3
  • KYNU
  • NR3C2
  • OCRL
  • SLC12A7
  • SLC26A7
  • SLC2A2
  • SLC34A1
  • SLC4A1
  • SLC4A2
  • SLC4A4
  • VIPAS39
  • VPS33B
  • WDR72
  • WNK1
  • WNK4

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Alexander RT, Bitzan M. Renal Tubular Acidosis. Pediatr Clin N Am 66 (2019) 135- 157. https://doi.org/10.1016/j.pcl.2018.08.011
  2. Kashoor I, Batlle D. Proximal renal tubular acidosis with and without Fanconi syndrome. Kidney Res Clin Pract 2019;38(3):267-281. https://doi.org/10.23876/j.krcp.19.056