IllnessRenal disease, familial cystic; differential diagnosis

NGS +

[Sanger]

Renal cysts can be clinically insignificant but can also lead to early end-stage renal failure. The cystic kidney is a disease diagnosed by renal size and cyst location and by extra-renal symptoms. Cystic kidney disease (CKD) may also be associated with extra-renal symptoms in multisystemic diseases, as in tuberous sclerosis and von Hippel-Lindau syndrome. Causal pathogenetically, glomerulocystic and medullary forms of CKD and juvenile nephronophthisis remain to be differentiated. Accordingly, CKDs have quite different causes, hereditary, systemic or rarely acquired and can develop in children and adults. Inherited CKDs are often autosomal dominant (ADPKD) or less commonly autosomal recessive CKDs (ARPKD) each with variable expressivity and penetrance. In more than 90% of familial CDKs, the genetic cause can currently be clarified by molecular genetics. Yet, an inconspicuous genetic finding does not imply exclusion of a suspected clinical diagnosis of CKD.

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: Familial cystic renal disease
• Alias: Polycystic kidney disease
• Alias: Polyzystische Nierenerkrankungen
• Alias: Renal cysts
• Allelic: Bardet-Biedl syndrome 14, modifier of (TMEM67)
• Allelic: Brain small vessel disease with/-out ocular anomalies (COL4A1)
• 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: Diabetes mellitus, noninsulin-dependent (HNF1B)
• Allelic: Erythrocytosis, familial, 2 (VHL)
• Allelic: Exudative vitreoretinopathy 4 (LRP5)
• Allelic: Focal cortical dysplasia, type II, somatic (TSC1)
• Allelic: Focal cortical dysplasia, type II, somatic (TSC2)
• Allelic: Hemangioblastoma, cerebellar, somatic (VHL)
• Allelic: Hemorrhage, intracerebral, susceptibility to (COL4A1)
• Allelic: Hyperostosis, endosteal (LRP5)
• Allelic: Hyperuricemic nephropathy, familial juvenile 1 (UMOD)
• Allelic: Joubert syndrome 4 (NPHP1)
• Allelic: Joubert syndrome 5 (CEP290)
• Allelic: Joubert syndrome 6 (TMEM67)
• Allelic: Leber congenital amaurosis 10 (CEP290)
• Allelic: Lymphangioleiomyomatosis (TSC1)
• Allelic: Lymphangioleiomyomatosis, somatic (TSC2)
• Allelic: Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
• Allelic: Orofaciodigital syndrome I (OFD1)
• Allelic: Osteopetrosis, AD 1 (LRP5)
• Allelic: Osteoporosis (LRP5)
• Allelic: Osteoporosis-pseudoglioma syndrome (LRP5)
• Allelic: Osteosclerosis (LRP5)
• Allelic: Pheochromocytoma (VHL)
• Allelic: Pneumothorax, primary spontaneous (FLCN)
• Allelic: RHYNS syndrome (TMEM67)
• Allelic: Renal cell carcinoma (HNF1B)
• Allelic: Renal cell carcinoma, somatic (VHL)
• Allelic: Retinal arteries, tortuosity of (COL4A1)
• Allelic: Retinitis pigmentosa 23 (OFD1)
• 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: Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
• Allelic: van Buchem disease, type 2 (LRP5)
• Allelic: von Hippel-Lindau syndrome (VHL)
• Alagille syndrome 2 (NOTCH2)
• Allelic: Anterior segment anomalies +/- cataract (EYA1)
• Allelic: Branchiootic syndrome 1 (EYA1)
• Allelic: Fabry disease, cardiac variant (GLA)
• Allelic: Glomerulosclerosis, focal segmental, 7 (PAX2)
• Allelic: Orofacial cleft 11 (BMP4)
• Allelic: Otofaciocervical syndrome (EYA1)
• Allelic: Retinitis pigmentosa 80 (IFT140)
• Alport syndrome 2, AR (COL4A4)
• Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
• Bardet-Biedl syndrome 14 (CEP290)
• Birt-Hogg-Dube syndrome (FLCN)
• Bone mineral density variability 1 (LRP5)
• Branchiootorenal syndrome 1, +/- cataracts (EYA1)
• Cystic kidney disease [MONDO:0002473] (IFT140)
• Fabry disease (GLA)
• Focal cortical dysplasia, type II, somatic (TSC1)
• Gillessen-Kaesbach-Nishimura syndrome (ALG9)
• Glomerulocystic kidney disease with hyperuricemia + isosthenuria (UMOD)
• Goiter, multinodular 1, with/-out Sertoli-Leydig cell tumors (DICER1)
• Hajdu-Cheney syndrome (NOTCH2)
• Hematuria, familial benign (COL4A4)
• Hepatorenocardiac degenerative fibrosis (TULP3)
• Hypoparathyroidism, sensorineural deafness + renal dysplasia (GATA3)
• Joubert syndrome 10 (OFD1)
• Meckel syndrome 3 (TMEM67)
• Meckel syndrome 4 (CEP290)
• Meckel syndrome 7 (NPHP3)
• Medullary cystic kidney disease 1 (MUC1)
• Medullary cystic kidney disease 2 (UMOD)
• Microphthalmia, syndromic 6 (BMP4)
• 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)
• Papillorenal syndrome (PAX2)
• Pleuropulmonary blastoma (DICER1)
• Polycystic kidney disease 1 (PKD1)
• Polycystic kidney disease 2 (PKD2)
• Polycystic kidney disease 3 (GANAB)
• Polycystic kidney disease 4, with/-out hepatic disease (PKHD1)
• Polycystic kidney disease 5 (DZIP1L)
• Polycystic kidney disease 6 with/-out polycystic liver disease (DNAJB11)
• Polycystic kidney disease 7 (ALG5)
• Polycystic liver disease 1 (PRKCSH)
• Polycystic liver disease 2 (SEC23)
• Polycystic liver disease 3 with/-out kidney cysts (ALG8)
• Polycystic liver disease 4 with/-out kidney cysts (LRP5)
• Renal coloboma syndrome [MONDO:0007352] (PAX2)
• Renal cyst [HP:0000107] (GLA)
• Renal cysts + diabetes syndrome (HNF1B)
• Renal dysplasia, cystic, susceptibility to (BICC1)
• Renal parapelvic cysts [panelapp] (GLA)
• Renal-hepatic-pancreatic dysplasia 1 (NPHP3)
• Renal-hepatic-pancreatic dysplasia 2 (NEK8)
• Rhabdomyosarcoma, embryonal, 2 (DICER1)
• Short-rib thoracic dysplasia 9 with/-out polydactyly (IFT140)
• Townes-Brocks branchiootorenal-like syndrome (SALL1)
• Townes-Brocks syndrome 1 (SALL1)
• Tuberous sclerosis-1 (TSC1)
• Tuberous sclerosis-2 (TSC2)
• Tubulointerstitial kidney disease, AD, 5 (SEC61A1)
• Vesicoureteral reflux 2 (ROBO2)