ErkrankungPränatal auffällige Nieren/Urogenitalsystem, Differentialdiagnose

NGS +

[Sanger]

Angeborene Anomalien der Nieren + Harnwege sind die häufigsten sonographisch festgestellten pränatalen Fehlbildungen. Obstruktive Uropathien machen die Mehrzahl der Fälle aus. Das Ziel der pränatalen Diagnose + Behandlung ist es, jene Anomalien zu erkennen, die Einfluss auf die Prognose des betroffenen Kindes haben + frühe postnatale Auswertung/Behandlung erfordern, um nachteilige Ergebnisse zu minimieren.

• 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: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)
• 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)
• 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)
• 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 7 (RPGRIP1L)
• Kabuki syndrome 1 (KMT2D)
• Kabuki syndrome 2 (KDM6A)
• Lymphedema-distichiasis syndrome with renal disease + diabetes mellitus (FOXC2)
• MIRAGE syndrome (SAMD9)
• Meckel syndrome 5 (RPGRIP1L)
• Meckel syndrome 7 (NPHP3)
• 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 2, infantile (INVS)
• Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (ZMYM2)
• Neurofacioskeletal syndrome with/-out renal agenesis (HS2ST1)
• Pallister-Hall syndrome (GLI3)
• Papillorenal syndrome (PAX2)
• Polycystic kidney disease 3 (GANAB)
• Polycystic kidney disease 4, with/-out hepatic disease (PKHD1)
• Prune belly syndrome (CHRM3)
• 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)
• Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
• 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)