Klinische FragestellungZystennieren, familiäre; Differentialdiagnose
Zusammenfassung
Umfassendes differentialdiagnostisches panel für Zystennieren, familiäre, mit 5 Leitlinien-kuratierten "core"-Genen, 15 weiteren implicit Leitlinien-erwähnten genen bzw. zusammen genommen 52 kuratierten Genen gemäß klinischer Verdachtsdiagnose
125,9 kb (Erweitertes Panel: inkl. additional genes)
- EDTA-Blut (3-5 ml)
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
HNF1B | 1674 | NM_000458.4 | AD | |
PKD1 | 12912 | NM_001009944.3 | AD, AR | |
PKD2 | 2907 | NM_000297.4 | AD | |
PKHD1 | 12225 | NM_138694.4 | AR | |
ALG8 | 1404 | NM_024079.5 | AD, AR | |
ALG9 | 1858 | NM_024740.2 | AD, AR | |
ANKS6 | 2616 | NM_173551.5 | AR | |
BICC1 | 2925 | NM_001080512.3 | AD | |
CEP164 | 4383 | NM_014956.5 | AR | |
CEP290 | 7440 | NM_025114.4 | AR | |
CEP83 | 2106 | NM_001042399.2 | AR | |
COL4A1 | 5010 | NM_001845.6 | AD | |
DCDC2 | 1431 | NM_016356.5 | AR | |
DNAJB11 | 1250 | NM_016306.6 | AD | |
DZIP1L | 2200 | NM_173543.3 | AR | |
GANAB | 2900 | NM_198335.4 | AD | |
GLIS2 | 1575 | NM_032575.3 | AR | |
INVS | 3198 | NM_014425.5 | AR | |
LRP5 | 4848 | NM_002335.4 | AD | |
MAPKBP1 | 4585 | NM_001128608.2 | AR | |
MUC1 | 822 | NM_002456.6 | AD | |
NEK8 | 2079 | NM_178170.3 | AR | |
NPHP1 | 2202 | NM_000272.5 | AR | |
NPHP3 | 3993 | NM_153240.5 | AR | |
NPHP4 | 4281 | NM_015102.5 | AR | |
OFD1 | 3039 | NM_003611.3 | XL | |
PRKCSH | 1587 | NM_002743.3 | AD | |
SEC63 | 2283 | NM_007214.5 | AD | |
TMEM67 | 2988 | NM_153704.6 | AR | |
TSC1 | 3495 | NM_000368.5 | AD | |
TSC2 | 5424 | NM_000548.5 | AD | |
TTC21B | 3951 | NM_024753.5 | AR | |
UMOD | 1923 | NM_003361.4 | AD | |
VHL | 642 | NM_000551.4 | AD | |
WDR19 | 4029 | NM_025132.4 | AR | |
ZNF423 | 3675 | NM_015069.5 | AD, AR |
Infos zur Erkrankung
Nierenzysten können klinisch unbedeutend sein aber auch früh zu Nierenversagen im Endstadium führen. Die zystische Niere ist eine Erkrankung, die anhand der Nierengröße und der Zystenlokalisation sowie ggf. durch extra-renale Symptome diagnostiziert wird. Zystische Nierenerkrankungen (CKD) können auch in multisystemischen Erkrankungen mit extra-renalen Symptomen verbunden sein, wie bei tuberöser Sklerose und von Hippel-Lindau-Syndrom. Kausalpathogenetisch sind weiterhin die glomerulozystische und die medulläre CKD-Formen sowie die juvenilen Nephronophthisen zu differenzieren. CKDs haben demnach ganz verschiedene Ursachen, erbliche, systemische oder selten erworbene und können sich bei Kindern und Erwachsenen entwickeln. Bei den vererbten CKDs handelt es sich häufig um autosomal dominante (ADPKD) oder seltener autosomal rezessive CKDs (ARPKD) jeweils mit variabler Expressivität und Penetranz. Bei über 90% der familiären CDKs kann die genetische Ursachen derzeit molekulargenetisch geklärt werden. Ein unauffälliger genetischer Befund bedeutet aber keinen Ausschluss der klinischen CKD Verdachtsdiagnose.
Referenzen: 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)
- AD
- AR
- XL
- Multiple OMIM-Ps
Bioinformatik und klinische Interpretation
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