Klinische FragestellungNiere + ableitende Harnwege, kongenitale Anomalien [CAKUT]; Differentialdiagnose

NGS +

[Sanger]

CAKUT umfassen ein breites Spektrum struktureller Anomalien von der vollständigen Nierenagenesie bis zur renalen Hypodysplasie, multizystische Nierendysplasie, Duplex-Nierensammelsystem, Ureter-Becken-Übergangsobstruktion, Megaureter, posteriore Urethralklappen + vesiko-ureteraler Reflux; Nierenanomalien werden bei nahen Verwandten von bis zu 10% der CAKUT-Patienten beobachtet.

• Alias: CAKUT - Congenital Anomalies of Kidney + Urinary Tract
• Alias: Renal or urinary tract malformation
• Allelic: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
• Allelic: Beare-Stevenson cutis gyrata syndrome (FGFR2)
• Allelic: Bent bone dysplasia syndrome (FGFR2)
• Allelic: Cataract 41 (WFS1)
• Allelic: Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
• Allelic: Craniosynostosis nonspecific (FGFR2)
• Allelic: Crouzon syndrome (FGFR2)
• Allelic: Cryptophthalmos, unilateral or bilateral, isolated (FREM2)
• Allelic: Cystinosis, ocular nonnephropathic (CTNS)
• Allelic: Deafness, AD 23 (SIX1)
• Allelic: Deafness, AD 6/14/38 (WFS1)
• Allelic: Diabetes mellitus, noninsulin-dependent, association with (WFS1)
• Allelic: Gastric cancer, somatic (FGFR2)
• Allelic: Jackson-Weiss syndrome (FGFR2)
• Allelic: LADD syndrome (FGFR2)
• Allelic: Lacrimo-auricolo-dento-digital syndrome (FGFR2)
• Allelic: Microphthalmia, isolated, with coloboma 8 (STRA6)
• Allelic: Microphthalmia, syndromic 6 (BMP4)
• Allelic: Orofacial cleft 11 (BMP4)
• Allelic: Pfeiffer syndrome (FGFR2)
• Allelic: Renal cell carcinoma (HNF1B)
• Allelic: Saethre-Chotzen syndrome (FGFR2)
• Allelic: Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
• Allelic: Scaphocephaly with maxillary retrusion + mental retardation (FGFR2)
• Allelic: Spastic paraplegia 23 (DSTYK)
• Allelic: Tetralogy of Fallot (JAG1)
• Allelic: Type 2 diabetes mellitus (HNF1B)
• Allelic: Wilms tumor, somatic (GGPC3)
• Acampomelic campomelic dysplasia (SOX9)
• Alagille syndrome 1 (JAG1)
• Alagille syndrome 2 (NOTCH2)
• Alpha-thalassemia/mental retardation syndrome (ATRX)
• Bardet-Biedl syndrome 1 (BBS1)
• Bardet-Biedl syndrome 13 (MKS1)
• Bardet-Biedl syndrome 14 (CEP290)
• Bardet-Biedl syndrome 14, modifier of (TMEM67)
• Bardet-Biedl syndrome 16 (SDCCAG8)
• Bifid nose with/-out anorectal + renal anomalies (FREM1)
• Bladder dysfunction, autonomic, with impaired pupillary reflex + secondary CAKUT (CHRNA3)
• Branchiooculofacial syndrome (TFAP2A)
• Branchiooculofacial syndrome (VPS33B)
• Branchiootic syndrome 3 (SIX1)
• Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
• Branchiootorenal syndrome 2 (SIX5)
• CAKUT [panelapp] (TBCD1, ZMYM2)
• CHARGE syndrome (CHD7)
• COACH syndrome 1 (TMEM67)
• COACH syndrome 3 (RPGRIP1L)
• Campomelic dysplasia (SOX9)
• Campomelic dysplasia with autosomal sex reversal (SOX9)
• Cenani-Lenz syndactyly syndrome (LRP4)
• Cong. kidney anomalies + urinary tract with/-out hearing loss, abnormal ears, developm. delay (PBX1)
• Congenital anomalies of kidney + urinary tract 1 (DSTYK)
• Congenital anomalies of kidney + urinary tract 2 (TBX18)
• Congenital anomalies of kidney + urinary tract 3 (NRIP1)
• Cornelia de Lange syndrome 1 (NIPBL1)
• Cystinosis, atypical nephropathic (CTNS)
• Cystinosis, late-onset juvenile or adolescent nephropathic (CTNS)
• Cystinosis, nephropathic (CTNS)
• Diabetes insipidus, nephrogenic, 2 (AQP2)
• Diarrhea 10, protein-losing enteropathy type (PLVAP)
• Duane-radial ray syndrome (SALL4)
• 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)
• Heimler syndrome 1 (PEX1)
• Hyperoxaluria, primary, type 1 (AGTX)
• Hypogonadotropic hypogonadism 1 with/-out anosmia; Kallmann syndrome 1 (ANOS1)
• Hypogonadotropic hypogonadism 16 with/-out anosmia (SEMA3A)
• Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Hypoparathyroidism, sensorineural deafness + renal dysplasia (GATA3)
• IVIC syndrome (SALL4)
• Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ZBTB24)
• Intellectual disability-hypotonic facies syndrome, XL (ATRX)
• Joubert syndrome 28 (MKS1)
• Joubert syndrome 5 (CEP290)
• Joubert syndrome 6 (TMEM67)
• Joubert syndrome 7 (RPGRIP1L)
• Kabuki syndrome 1 (KMT2D)
• Kabuki syndrome 2 (KDM6A)
• Leber congenital amaurosis 10 (CEP290)
• Lower urinary tract obstruction, congenital (BNC2)
• Manitoba oculotrichoanal syndrome (FREM1)
• Meckel syndrome 1 (MKS1)
• Meckel syndrome 3 (TMEM67)
• Meckel syndrome 4 (CEP290)
• Meckel syndrome 5 (RPGRIP1L)
• Meckel syndrome 7 ((NPHP3)
• Megabladder, congenital (MYOCD)
• Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 (ACTG2)
• Menke-Hennekam syndrome 1 (CREBBP)
• Microcephaly, facial dysmorphism, renal agenesis + ambiguous genitalia syndrome (CTU2)
• Microphthalmia, syndromic 9 (STRA6)
• Multinucleated neurons, anhydramnios, renal dyspl., cerebellar hypoplasia + hydranencephaly (CEP55)
• Nephronophthisis 11 (TMEM67)
• Nephronophthisis 12 (TTC21B)
• Nephronophthisis 3 (NPHP3)
• Nephronophthisis 7 (GLIS2)
• Nephronophthisis 9 (NEK8)
• Neurofacioskeletal syndrome with/-out renal agenesis (HS2ST1)
• Pallister-Hall syndrome (GLI3)
• Papillorenal syndrome (PAX2)
• Peroxisome biogenesis disorder 1A, Zellweger (PEX1)
• Peroxisome biogenesis disorder 1B, NALD/IRD (PEX1)
• Polycystic kidney disease 4, with/-out hepatic disease (PKHD1)
• RHYNS syndrome (TMEM67)
• Renal adysplasia [panelapp] (RET)
• Renal cysts + diabetes syndrome (HNF1B)
• Renal dysplasia, cystic, susceptibility to (BICC1)
• Renal dysplasia, cystic, susceptibility to [genecards] (CDC5L)
• Renal hypodysplasia/aplasia 1 (ITGA8)
• Renal hypodysplasia/aplasia 2 (FGF20)
• Renal hypodysplasia/aplasia 3 (GREB1L)
• Renal tubular dysgenesis (ACE)
• Renal tubular dysgenesis (AGT)
• Renal tubular dysgenesis (AGTR1)
• Renal tubular dysgenesis (REN)
• Renal-hepatic-pancreatic dysplasia 1 (NPHP3)
• Renal-hepatic-pancreatic dysplasia 2 (NEK8)
• Robinow syndrome, AD 1 (WNT5A)
• Robinow syndrome, AR (ROR2)
• Rubinstein-Taybi syndrome 1 (CREBBP)
• STAR syndrome [toe Syndactyly, Telecanthus, Anogenital + Renal malformations] (CCNQ syn. FAM58A)
• Senior-Loken syndrome 6 (CEP290)
• Senior-Loken syndrome 7 (SDCCAG8)
• Short-rib thoracic dysplasia 4 with/-out polydactyly (TTC21B)
• Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Stromme syndrome (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)
• Traboulsi syndrome (ASPH)
• Tubulointerstitial kidney disease, AD, 4 (REN)
• Ulnar-mammary syndrome (TBX3)
• Urofacial syndrome 1 (HPSE2)
• Urofacial syndrome 2 (LRIG2)
• VACTERL association, XL (ZIC3)
• 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)
• Wolfram syndrome 1 (WFS1)
• Wolfram-like syndrome, AD (WFS1)