Definition
Primary distal renal tubular acidosis (dRTA) is a rare genetic disease usually manifests during childhood or adolescence characterized by distal tubular dysfunction leading to metabolic acidosis and alkaline urine. Patients develop hyperchloremic metabolic acidosis, growth retardation is a major concern in these children. The disease is caused by defects in at least three genes (SLC4A1, ATP6V0A4, and ATP6V1B1) involved in urinary distal acidification and is inherited either in an autosomal dominant manner of in a recessive one. Hearing loss is often seen in autosomal recessive RTA.
Why to perform genetic testing in cases with suspected
- To better perform risk stratification and prognosis
- To select the best therapeutic option for that spcific patient based on the genotype
- To identify other relatives at risk to develop the disease
Our RTA panel
ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4, WDR72
Important: All our panels can be modified based on the phenotype. Please contact us if you have questions
What to expect from this test: The yield of the genetic test in primary tubular acidosis is close to 80%.
Recommended Literature
- Clinical and molecular aspects of distal renal tubular acidosis in children, Besouw MTP., et al., Pediatr Nephrol (2017) 32: 987.
- Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis. Kidney Blood Press Res. 2018;43(2):513-521.
- Genetic causes and mechanisms of distal renal tubular acidosis. Batlle D, Haque SK. Nephrol Dial Transplant. 2012 Oct;27(10):3691-704.
Download here interesting open access manuscripts on RTA