Klinische FragestellungPränatal auffällige Nieren/Urogenitalsystem, Differentialdiagnose

NGS +

[Sanger]

Angeborene Anomalien der Niere und der Harnwege (CAKUT) umfassen eine große Vielzahl von Fehlbildungen, die aus einer fehlerhaften Entwicklung der Niere oder der Harnwege resultieren und häufig zu Nierenversagen führen. Das klinische Spektrum reicht von schweren Fehlbildungen, wie der Nierenagenesie, bis zu potenziell milderen Manifestationen, wie dem vesikoureteralen Reflux. Fast 50% der Fälle von chronischer Nierenerkrankung, die in den ersten drei Lebensjahrzehnten auftreten, sind durch CAKUT verursacht. Es gibt Hinweise darauf, dass eine große Anzahl von CAKUT genetischer Herkunft ist. Es wurden pathogene Varianten mehr als 50 Genen als monogene Ursachen von CAKUT identifiziert, die zu 12–20% der Ätiologie der Krankheit beitragen. Pathogene Kopienzahlvarianten können bei 4–11% der Patienten nachgewiesen werden. Es werden autosomal-rezessive, autosomal-dominante und X-gebundene Erbgänge beobachtet. Literatur: Kolvenbach et al., Nature Reviews Nephrology 19 (2023), 709–720

• Alias: Congenital Anomalies of the Kidney and Urinary Tract - CAKUT
• Alias: Prenatally unusual ultrasound findings in urinary tract
• Alias: Renal or urinary tract malformation
• Allelic: Bone marrow failure [panelapp] (EXOC3L)
• Allelic: Branchiootic syndrome 3 (SIX1)
• Allelic: Dandy-Walker malformation [panelapp] (EXOC3L)
• Allelic: Deafness, AD 23 (SIX1)
• Allelic: Deafness, AD 80 (GREB1L)
• Allelic: Diabetes mellitus, noninsulin-dependent (HNF1B)
• Allelic: Diarrhea 10, protein-losing enteropathy type (PLVAP)
• Allelic: Hydroxykynureninuria (KYNU)
• Allelic: Hypertension, essential, susceptibility to (AGT)
• Allelic: Hyperuricemic nephropathy, familial juvenile 2 (REN)
• Allelic: Manitoba oculotrichoanal syndrome (FREM1)
• Allelic: Nephronophthisis 3 (NPHP3)
• Allelic: Renal cell carcinoma (HNF1B)
• Allelic: Retinitis pigmentosa 23 (OFD1)
• Allelic: Spermatogenic failure 72 (WDR19)
• Allelic:Preeclampsia, susceptibility to (AGT)
• 46XY sex reversal 2, dosage-sensitive (NR0B1)
• Adrenal hypoplasia, congenital (NR0B1)
• Alagille syndrome 1 (JAG1)
• Alagille syndrome 2 (NOTCH2)
• Arthrogryposis, renal dysfunction, + cholestasis 1 (VPS33B)
• Bardet-Biedl syndrome 1 (BBS1)
• Bardet-Biedl syndrome 1, modifier of (ARL6)
• Bardet-Biedl syndrome 1, modifier of (CCDC28B)
• Bardet-Biedl syndrome 10 (BBS10)
• Bardet-Biedl syndrome 11 (TRIM32)
• Bardet-Biedl syndrome 12 (BBS12)
• Bardet-Biedl syndrome 13 (MKS1)
• Bardet-Biedl syndrome 14 (CEP290)
• Bardet-Biedl syndrome 14, modifier of (TMEM67)
• Bardet-Biedl syndrome 15 (WDPCP)
• Bardet-Biedl syndrome 16 (SDCCAG8)
• Bardet-Biedl syndrome 17 (LZTFL1)
• Bardet-Biedl syndrome 18 (BBIP1)
• Bardet-Biedl syndrome 19 (IFT27)
• Bardet-Biedl syndrome 2 (BBS2)
• Bardet-Biedl syndrome 20 (IFT172)
• Bardet-Biedl syndrome 21 (CFAP418)
• Bardet-Biedl syndrome 22 (IFT74)
• Bardet-Biedl syndrome 3 (ARL6)
• Bardet-Biedl syndrome 4 (BBS4)
• Bardet-Biedl syndrome 5 (BBS5)
• Bardet-Biedl syndrome 6 (MKKS)
• Bardet-Biedl syndrome 7 (BBS7)
• Bardet-Biedl syndrome 8 (TTC8)
• Bardet-Biedl syndrome 9 (PTHB1)
• Bartter syndrome, type 1 (SLC12A1)
• Bifid nose with/-out anorectal + renal anomalies (FREM1)
• Bladder dysfunction, autonomic, with impaired pupillary reflex + secondary CAKUT (CHRNA3)
• Branchio-oto-renal syndrome [panelapp] (SIX1)
• Branchiooculofacial syndrome (TFAP2A)
• Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
• Branchiootorenal syndrome 2 (SIX5)
• CAKUT + VACTERL association [panelapp] (TRAP1)
• CAKUT [panelapp] (EXOC3L2)
• CAKUT [panelapp] (PLVAP)
• CAKUT [panelapp] (SLIT2)
• CAKUT [panelapp] (TBC1D1)
• CAKUT syndrome with/-out hearing loss, abnormal ears/developmental delay (PBX1)
• CHARGE syndrome (CHD7)
• COACH syndrome 1 (TMEM67)
• Cenani-Lenz syndactyly syndrome (LRP4)
• Congenital anomalies of kidney + urinary tract 1 (DSTYK)
• Congenital anomalies of kidney + urinary tract 2 (TBX18)
• Congenital anomalies of kidney + urinary tract 3 (NRIP1)
• Congenital anomalies of kidney + urinary tract with/-out hearing loss, abn. ears/dev. delay (PBX1)
• Cornelia de Lange syndrome 1 (NIPBL)
• Cranioectodermal dysplasia 2 (WDR35)
• Cranioectodermal dysplasia 4 (WDR19)
• Duane-radial ray/Okihiro/acrorenoocular syndrome (SALL4)
• Fanconi anemia, complementation group B (FANCB)
• Focal segmental glomerulosclerosis 9 (CRB2)
• Fraser syndrome 1 (FRAS1)
• Fraser syndrome 2 (FREM2)
• Fraser syndrome 3 (GRIP1)
• Glomerulosclerosis, focal segmental, 7 (PAX2)
• Guttmacher syndrome (HOXA13)
• Hajdu-Cheney syndrome (NOTCH2)
• Hand-foot-uterus syndrome (HOXA13)
• Heterotaxy, visceral, 1, XL (ZIC3)
• Hypogonadotropic hypogonadism 1 with/-out anosmia, Kallmann syndrome 1 (ANOS1)
• Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Hypoparathyroidism, sensorineural deafness, and renal dysplasia (GATA3)
• Joubert syndrome 10 (OFD1)
• Joubert syndrome 2 (TMEM216)
• Joubert syndrome 28 (MKS1)
• Joubert syndrome 29 (TMEM107)
• Joubert syndrome 34 (B9D2)
• Joubert syndrome 4 (NPHP1)
• Joubert syndrome 6 (TMEM67)
• Joubert syndrome 7 (RPGRIP1L)
• Kabuki syndrome 1 (KMT2D)
• Kabuki syndrome 2 (KDM6A)
• Lymphedema-distichiasis syndrome with renal disease + diabetes mellitus (FOXC2)
• MIRAGE syndrome (SAMD9)
• Meckel syndrome 1 (MKS1)
• Meckel syndrome 10 (B9D2)
• Meckel syndrome 11 (TMEM231)
• Meckel syndrome 12 (KIF14)
• Meckel syndrome 13 (TMEM107)
• Meckel syndrome 14 (TXNDC15)
• Meckel syndrome 2 (TMEM216)
• Meckel syndrome 3 (TMEM67)
• Meckel syndrome 4 (CEP290)
• Meckel syndrome 5 (RPGRIP1L)
• Meckel syndrome 6 (CC2D2A)
• Meckel syndrome 7 (NPHP3)
• Meckel syndrome 8 (TCTN2)
• Meckel syndrome 9 (B9D1)
• Megabladder, congenital (MYOCD)
• Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 (MYLK)
• Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MYH11)
• Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 (LMOD1)
• Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 (MYL9)
• Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 (ACTG2)
• Microcephaly, facial dysmorphism, renal agenesis + ambiguous genitalia syndrome (CTU2)
• Microphthalmia, syndromic 6 (BMP4)
• Microphthalmia, syndromic 6 (BNC2)
• Microphthalmia, syndromic 9 (STRA6)
• Mitochondrial DNA depletion syndrome 8A, encephalomyopathic type with renal tubulopathy (RRM2B)
• Mullerian aplasia + hyperandrogenism (WNT4)
• Multinucleated neurons, anhydramnios, renal dysplasia, cereb. hypoplasia, hydranencephaly (CEP55)
• Nephronophthisis 1, juvenile (NPHP1)
• Nephronophthisis 11 (TMEM67)
• Nephronophthisis 13 (WDR19)
• Nephronophthisis 2, infantile (INVS)
• Nephronophthisis 4 (NPHP4)
• Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (ZMYM2)
• Neurofacioskeletal syndrome with/-out renal agenesis (HS2ST1)
• Orofaciodigital syndrome I (OFD1)
• Pallister-Hall syndrome (GLI3)
• Papillorenal syndrome (PAX2)
• Polycystic kidney disease 1 (PKD1)
• Polycystic kidney disease 2 (PKD2)
• Polycystic kidney disease 3 (GANAB)
• Polycystic kidney disease 4, with/-out hepatic disease (PKHD1)
• Prune belly syndrome (CHRM3)
• RHYNS syndrome (TMEM67)
• Renal agenesis [panelapp] (RET)
• Renal cysts + diabetes syndrome (HNF1B)
• Renal dysplasia [panelapp] (EXOC3L)
• Renal hypodysplasia/aplasia 1 (ITGA8)
• Renal hypodysplasia/aplasia 2 (FGF20)
• Renal hypodysplasia/aplasia 3 (GREB1L)
• Renal tubular dysgenesis (ACE)
• Renal tubular dysgenesis (AGTR1)
• Renal tubular dysgenesis (REN)
• Renal-hepatic-pancreatic dysplasia 1 (NPHP3)
• Robinow syndrome, AD 1 (WNT5A)
• Robinow syndrome, AR (ROR2)
• SERKAL syndrome (WNT4)
• Senior-Loken syndrome 1 (NPHP1)
• Senior-Loken syndrome 3 (SLSN3)
• Senior-Loken syndrome 4 (NPHP4)
• Senior-Loken syndrome 5 (IQCB1)
• Senior-Loken syndrome 6 (CEP290)
• Senior-Loken syndrome 7 (SDCCAG8)
• Senior-Loken syndrome 8 (WDR19)
• Senior-Loken syndrome 9 (TRAF3IP1)
• Short-rib thoracic dysplasia 5 +/- polydactyly (WDR19)
• Short-rib thoracic dysplasia 7 +/- polydactyly (WDR35)
• Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
• Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Stromme syndrome: intestinal atresia, ocular +/- renal/cardiac abnormalities, microcephaly (CENPF)
• Structural heart defects + renal anomalies syndrome (TMEM260)
• Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome (LIFR)
• Townes-Brocks branchiootorenal-like syndrome (SALL1)
• Townes-Brocks syndrome 1 (SALL1)
• Tubulointerstitial kidney disease, AD, 4 (REN)
• Urofacial syndrome 1 (HPSE2)
• Urofacial syndrome 2 (LRIG2)
• VACTERL association, XL (ZIC3)
• Ventriculomegaly with cystic kidney disease (CRB2)
• Vertebral, cardiac, renal + limb defects syndrome 1 (HAAO)
• Vertebral, cardiac, renal + limb defects syndrome 2 (KYNU)
• Vertebral, cardiac, renal + limb defects syndrome 3 (NADSYN1)
• Vertebral, cardiac, tracheoesophageal, renal + limb defects (WBP11)
• Vesicoureteral reflux 2 (ROBO2)
• Vesicoureteral reflux 3 (SOX17)