Bartter syndrome [11 genes]

Bartter syndrome (BS) encompasses a group of very similar kidney disorders that are characterized by an ionic imbalances of potassium, sodium, chlorine, and other ions. Excessive loss of salts and potassium leads to hypokalemic metabolic alkalosis with polyuria and hypercalciuria. con poliuria e hipercalciuria. These alterations can lead to nephrocalcinosis, osteopenia, muscle weakness, cramps, and fatigue. In some cases, it can lead to polyhydramnios in the fetus and hearing loss in children. Causative genetic defects are found in genes coding for chlorine and potassium channels, ion transporters and proteins associated with ion-transport complexes, and they follow autosomal recessive, autosomal dominant, and X-linked inheritance patterns.

  • Polyuria
  • Hypokalemic metabolic alkalosis
  • Loss of salts and potassium
  • Dehydration
  • Hypertrophy of the juxtaglomerular apparatus, hyperaldosteronism
  • Nephrocalcinosis

Prevalence: 1/1,000,000

  • Potassium chloride supplements
  • Aldosterone receptor blockers
  • Angiotensin-converting enzyme inhibitors
  • Sodium channel blockers
  • Non-steroidal anti-inflammatory drugs

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Bartter syndrome

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110428

Bartter syndrome: View panel
  • AP2S1
  • BSND
  • CASR
  • CLCNKA
  • CLCNKB
  • GNA11
  • KCNJ1
  • MAGED2
  • SLC12A1
  • SLC12A2
  • SLC12A3

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. Bokhari SRA, Zulfiqar H, Mansur A. Bartter Syndrome. 2019 Sep 11. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan-. PubMed PMID: 28723048.
  2. Cunha TDS, Heilberg IP. Bartter syndrome: causes, diagnosis, and treatment. Int J Nephrol Renovasc Dis. 2018 Nov 9;11:291-301. doi: 10.2147/IJNRD.S155397. eCollection 2018. Review. PubMed PMID: 30519073; PubMed Central PMCID: PMC6233707.
  3. Seyberth HW, Weber S, Kömhoff M. Bartter’s and Gitelman’s syndrome. Curr Opin Pediatr. 2017 Apr;29(2):179-186. doi: 10.1097/MOP.0000000000000447. Review. PubMed PMID: 27906863.