IllnessPolycystic kidney disease, ARPKD; differential diagnosis

NGS +

[Sanger]

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/

• 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)