Autosomal recessive polycystic kidney disease (ARPKD) [5 genes]

Polycystic kidney disease (PKD) is one of the main causes of terminal renal disease. The forms occurring in adults generally follow an autosomal dominant inheritance pattern (ADPKD), while autosomal recessive forms (ARPKD) are rare and more severe and usually occur during the perinatal period or early infancy. PKD is characterized by nephromegaly and by the presence of multiple renal cysts, which, in the case of ADPKD, can develop in all areas of the kidney, although they usually affect the distal portions of the nephron and collecting duct system. Mutations in the genes encoding polycystin-1 (PKD1) and polycystin-2 (PKD2) account for approximately 75% and 15% of ADPKD cases, respectively. ADPKD usually manifests with liver fibrosis, nephromegaly, and cysts typically affecting the collecting duct. Both genetic forms usually lead to chronic renal disease with progressive loss of renal function and kidney failure.
The biological nature of the affected gene provides relevant information about the pathophysiology of the disease and is essential for its genetic diagnosis and prognosis.

~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 ARPKD allows for a precise molecular diagnosis that provides the information necessary to perform genetic counseling, direct patient management, and offers predictive value to carrier patients.

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

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

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Autosomal recessive polycystic kidney disease (ARPKD)

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202008449

Autosomal recessive polycystic kidney disease (ARPKD): View panel
  • ANKS6
  • CEP83
  • DYNC2H1
  • DZIP1L
  • PKHD1

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.