IllnessRenal-tubular acidosis, differential diagnosis
Summary
Comprehensive differential diagnostic panel for Renal-tubular acidosis comprising 7 or altogether 8 curated genes according to the clinical signs
17,1 kb (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS +
Gene panel
Informations about the disease
Renal-tubular acidosis is the development of metabolic acidosis due to a defect in the renal tubules, either to absorb bicarbonate or to increase hydrogen excretion in response to acidemia. Four types are distinguished: Type 1 (distal; ATP6V0A4, ATP6V1B1, FOXI1, SLC4A1, WDR72 genes) inability to excrete hydrogen ions. Type 2 (proximal; SLC4A4 gene) Aggravated bicarbonate absorption when plasma bicarbonate is above a threshold value; often associated with generalized proximal tubular dysfunction (e.g. also in Lowe and Fanconi syndrome) with bicarbonaturia, glucosuria, phosphaturia, uricosuria, proteinuria, aminoaciduria. Type 3 (distal and proximal; CA2 gene) Rare cases of autosomal recessive osteopetrosis with renal-tubular acidosis. Type 4 (hypoaldosteronism; CYP11B2 gene) Disturbed ammonia synthesis and thus limited acid buffering. Both autosomal-recessive and autosomal-dominant inheritance is observed regrading the different inherited causes. The diagnostic sensitivity of the DNA tests has been sufficiently investigated for type 1; 15% of the cases have unknown genetic causes as well as largely unknown proportions in type 2-4. An inconspicuous genetic finding therefore does not mean a reliable exclusion of the suspected clinical diagnosis.
(Basic diagnostic genes: ###; additional gene: ###)
References: https://www.ncbi.nlm.nih.gov/books/NBK547595/
https://www.ncbi.nlm.nih.gov/books/NBK1127/
- Alias: Hereditary distal renal tubular acidosis
- Alias: Primary renal tubular acidosis
- Allelic: Amelogenesis imperfecta, type IIA3 (WDR72)
- Allelic: Blood groups, Diego, Froese, Swann, Waldner, Wright
- Allelic: Cryohydrocytosis (SLC4A1)
- Allelic: Malaria, resistance to (SLC4A1)
- Allelic: Ovalocytosis, SA type (SLC4A1)
- Allelic: Spherocytosis, type 4 (SLC4A1)
- Distal renal tubular acidosis 1 (SLC4A1)
- Distal renal tubular acidosis 2 with progressive sensorineural hearing loss (ATP6V1B1)
- Distal renal tubular acidosis 3 with/-out sensorineural hearing loss (ATP6V0A4)
- Distal renal tubular acidosis 4 with hemolytic anemia (SLC4A1)
- Enlarged vestibular aqueduct (FOXI1)
- Fanconi renotubular syndrome 3 (EHHADH)
- Metabolic acidosis, glucosuria, phosphaturia, aminoaciduria + proteinuria (EHHADH)
- Osteopetrosis, AR 3, with renal tubular acidosis (CA2)
- Renal tubular acidosis, proximal, with ocular abnormalities (SLC4A4)
- AD
- AR
- Multiple OMIM-Ps
Bioinformatics and clinical interpretation
No text defined