Autosomal dominant polycystic kidney disease (ADPKD) [17 genes]

Polycystic kidney disease (PKD) is one of the main causes of end-stage kidney disease. The forms present in adults generally have an autosomal dominant inheritance pattern (ADPKD), while the autosomal recessive forms (ARPKD) are more rare and severe and usually are present in the perinatal period or early childhood. PKD is characterized by nephromegaly and multiple renal cysts and, in ADPKD, can surge in all parts of the kidney, although they usually affect distal regions of the nephron and the collecting duct. Mutations in the polycystin 1 (PKD1) and polycystin 2 (PKD2) genes explain about 75% and 15% of ADPKD, respectively. The biological nature of the affected gene provides important information for understanding the pathophysiology of the disease and is essential for the genetic diagnosis and prognosis of the disease.

New genes associated with minority ADPKD forms have recently been incorporated, which improves the diagnostic performance of this service.

~1/1,000 (ADPKD)
~1/10,000 (ARPKD)

  • Kidney transplant
  • Vasopressin antagonist (Tolvaptan)
  • cAMP and mTOR inhibitors
  • Monitoring and treatment of complications (cysts, nephrolithiasis, kidney infections, hematuria, hypertension, cancer)
  • Genotype-phenotype correlation to anticipate adverse kidney events

The identification of genetic variants causing ADPKD allows for a precise molecular diagnosis that provides the necessary information to perform genetic counseling, direct patient management, and offers predictive value to carrier patients.

This panel is indicated for suspected ADPKD and includes the following clinical characteristics:

  • Multiple renal cysts (bilateral)
  • Nephromegaly
  • Renal (and/or liver) fibrosis
  • Chronic kidney disease
  • End-stage renal failure

It is estimated that the performance of this panel is approximately 85%, including the CNVS analysis, which can account for 2.5% of positive cases.

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Autosomal dominant polycystic kidney disease (ADPKD)

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110427

Autosomal dominant polycystic kidney disease (ADPKD): View panel
  • ALG8
  • ALG9
  • BICC1
  • COL4A3
  • COL4A4
  • COL4A5
  • DNAJB11
  • GANAB
  • HNF1B
  • IFT140
  • JAG1
  • LRP5
  • NOTCH2
  • PKD1
  • PKD2
  • PRKCSH
  • SEC63

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. Bergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE. Polycystic kidney disease. Nat Rev Dis Primers. 2018 Dec 6;4(1):50.doi:10.1038/s41572-018-0047-y. Review. PubMed PMID: 30523303; PubMed Central PMCID: PMC6592047.
  2. Subramanian S, Ahmad T. Polycystic Kidney Disease Of Childhood. 2019 Jan 6. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan-. PubMed PMID: 30725822.
  3. Müller RU, Benzing T. Cystic Kidney Diseases From the Adult Nephrologist’s Point of View. Front Pediatr. 2018 Mar 22;6:65. doi: 10.3389/fped.2018.00065. eCollection 2018. Review. PubMed PMID: 29623269; PubMed Central PMCID: PMC5875104.
  4. Armstrong ME, Thomas CP. Diagnosis of monogenic chronic kidney diseases. Curr Opin Nephrol Hypertens. 2019 Mar;28(2):183-194. doi: 10.1097/MNH.0000000000000486. Review. PubMed PMID: 30601180.