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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessPolycystic kidney disease, ARPKD; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Polycystic kidney disease, ARPKD, comprising 1 guideline-curated core gene, altogether2 guideline-curated genes and alt in all 23 curated genes according to the clinical signs

ID
PP0752
Number of genes
20 Accredited laboratory test
Examined sequence length
12,3 kb (Core-/Core-canditate-Genes)
83,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
PKHD112225NM_138694.4AR
ALG91858NM_024740.2AR, AD
ANKS62616NM_173551.5AR
CEP1644383NM_014956.5AR
CEP2907440NM_025114.4AR
CEP832106NM_001042399.2AR
DCDC21431NM_016356.5AR
DZIP1L2200NM_173543.3AR
GLIS21575NM_032575.3AR
INVS3198NM_014425.5AR
MAPKBP14585NM_001128608.2AR
NEK82079NM_178170.3AR
NPHP12202NM_000272.5AR
NPHP33993NM_153240.5AR
NPHP44281NM_015102.5AR
PKD112912NM_001009944.3AD, AR
TMEM672988NM_153704.6AR
TTC21B3951NM_024753.5AR
WDR194029NM_025132.4AR
ZNF4233675NM_015069.5AR, AD

Informations about the disease

Clinical Comment

Kidney cysts can be clinically insignificant but can also lead to early end-stage renal failure. The cystic kidney is a disease that is diagnosed on the basis of kidney size and cyst localisation, and possibly by extra-renal symptoms. Cystic kidney disease (CKD) can also be associated with extra-renal symptoms in multisystemic diseases, such as tuberous sclerosis and von Hippel-Lindau syndrome. Causal pathogenetic differentiation must also be made between glomerulocystic and medullary forms of CKD and juvenile nephronophthisis. CKDs therefore have very different causes, hereditary, systemic or rarely acquired and can develop in children and adults. Inherited CKDs are often autosomal dominant (ADPKD) or more rarely autosomal recessive CKDs (ARPKD), each with variable expressivity and penetrance. In over 90% of familial CDKs, the genetic causes can currently be clarified by molecular genetics. However, an inconspicuous genetic finding does not mean that the clinically suspected diagnosis of CKD can be excluded.

References: https://www.ncbi.nlm.nih.gov/books/NBK1246/https://www.ncbi.nlm.nih.gov/books/NBK1326/https://www.ncbi.nlm.nih.gov/books/NBK1356/

https://www.ncbi.nlm.nih.gov/books/NBK368475/https://www.ncbi.nlm.nih.gov/books/NBK153723/

 

Synonyms
  • Alias: AR polyzystische Nierenerkrankung
  • Alias: AR-PKD
  • Alias: Autosomal recessive polycystic kidney disease
  • Alias: Familial cystic renal disease
  • Alias: Nierenkrankheit, polyzystische, AR
  • Alias: Polycystic kidney disease
  • Alias: Polyzystische Nierenerkrankungen
  • Alias: Renal cysts
  • Allelic: Bardet-Biedl syndrome 14 (CEP290)
  • Allelic: Bardet-Biedl syndrome 14, modifier of (TMEM67)
  • Allelic: COACH syndrome (TMEM67)
  • Allelic: Congenital disorder of glycosylation, type Ih (ALG8)
  • Allelic: Congenital disorder of glycosylation, type Il (ALG9)
  • Allelic: Cranioectodermal dysplasia 4 (WDR19)
  • Allelic: Deafness, AR 66 (DCDC2)
  • Allelic: Joubert syndrome 27 (B9D1)
  • Allelic: Joubert syndrome 4 (NPHP1)
  • Allelic: Joubert syndrome 5 (CEP290)
  • Allelic: Joubert syndrome 6 (TMEM67)
  • Allelic: Leber congenital amaurosis 10 (CEP290)
  • Allelic: RHYNS syndrome (TMEM67)
  • Allelic: Retinitis pigmentosa 80 (IFT140)
  • Allelic: Sclerosing cholangitis, neonatal (DCDC2)
  • Allelic: Senior-Loken syndrome 4 (NPHP4)
  • Allelic: Senior-Loken syndrome 6 (CEP290)
  • Allelic: Senior-Loken syndrome 8 (WDR19)
  • Allelic: Senior-Loken syndrome-1 (NPHP1)
  • Allelic: Short-rib thoracic dysplasia 4 with/-out polydactyly (TTC21B)
  • Allelic: Short-rib thoracic dysplasia 5 with/-out polydactyly (WDR19)
  • Allelic: Short-rib thoracic dysplasia 9 with or without polydactyly (IFT140)
  • Bardet-Biedl syndrome 14 (CEP290)
  • Cystic kidney disease [MONDO:0002473, panelapp] (IFT140)
  • Gillessen-Kaesbach-Nishimura syndrome (ALG9)
  • Meckel syndrome 3 (TMEM67)
  • Meckel syndrome 4 (CEP290)
  • Meckel syndrome 7 (NPHP3)
  • Meckel syndrome 9 (B9D1)
  • Nephronophthisis 1, juvenile (NPHP1)
  • Nephronophthisis 11 (TMEM67)
  • Nephronophthisis 12 (TTC21B)
  • Nephronophthisis 13 (WDR19)
  • Nephronophthisis 14 (ZNF423)
  • Nephronophthisis 15 (CEP164)
  • Nephronophthisis 16 (ANKS6)
  • Nephronophthisis 18 (CEP83)
  • Nephronophthisis 19 (DCDC2)
  • Nephronophthisis 2, infantile (INVS)
  • Nephronophthisis 20 (MAPKBP1)
  • Nephronophthisis 3 (NPHP3)
  • Nephronophthisis 4 (NPHP4)
  • Nephronophthisis 7 (GLIS2)
  • Nephronophthisis 9 (NEK8)
  • Nephronophthisis-like nephropathy 1 (XPNPEP3)
  • Polycystic kidney disease 1 (PKD1)
  • Polycystic kidney disease 4, with/-out hepatic disease (PKHD1)
  • Polycystic kidney disease 5 (DZIP1L)
  • Polycystic liver disease 3 with/-out kidney cysts (ALG8)
  • Renal-hepatic-pancreatic dysplasia 1 (NPHP3)
  • Renal-hepatic-pancreatic dysplasia 2 (NEK8)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined