ErkrankungGlomerulosklerose, fokal-segmentale; Differentialdiagnose

NGS +

[Sanger]

Pathologischer Befund bei verschiedenen Nierenerkrankungen, der sich klinisch als Proteinurie + progressive Nierenfunktionsstörung manifestiert. Einige Patienten entwickeln ein nephrotisches Syndrom, das eine massive Proteinurie, Hypoalbuminämie, Hyperlipidämie und Ödeme umfasst. FSGS-Patienten können eine Proteinurie im nephrotischen Bereich ohne andere Merkmale eines nephrotischen Syndroms aufweisen.

• Alias: Focal segmental glomerulosclerosis; FSGS
• Allelic: Cerebral palsy, spastic quadriplegic, 2 (KANK1)
• Allelic: Deafness, AD 17 (MYH9)
• Allelic: Denys-Drash-, Frasier-, Meacham syndrome; Mesothelioma, somatic; Wilms tumor, type 1 (WT1)
• Allelic: Epidermolysis bullosa of hands and feet (ITGB4)
• Allelic: Epidermolysis bullosa, junctional, non-Herlitz type (ITGB4)
• Allelic: Epidermolysis bullosa, junctional, with pyloric atresia (ITGB4)
• Allelic: Hematuria, benign familial (COL4A3, COL4A4)
• Allelic: Palmoplantar keratoderma + woolly hair (KANK2)
• Allelic: Short-rib thoracic dysplasia 4 with/-out polydactyly (TTC21B)
• Alport syndrome 1, XL (COL4A5)
• Alport syndrome 2, AR (COL4A3, COL4A4)
• Alport syndrome 3, AD (COL4A3)
• Coenzyme Q10 deficiency, primary, 1 (COQ2)
• Coenzyme Q10 deficiency, primary, 3 (PDSS2)
• Coenzyme Q10 deficiency, primary, 6 (COQ6)
• Congenital disorder of glycosylation, type Ia (PMM2)
• Congenital disorder of glycosylation, type Ik (ALG1)
• Congenital nephrotic syndrome [panelapp green] (PODXL)
• Donnai-Barrow syndrome (LRP2)
• End-stage renal disease, nondiabetic, susceptibility to (APOL1)
• Epidermolysis bullosa simplex 7, with nephropathy + deafness (CD151)
• Epilepsy, progressive myoclonic 4, with/-out renal failure (SCARB2)
• Focal segmental glomerulosclerosis + neurodevelopmental syndrome (TRIM8)
• Focal segmental glomerulosclerosis 10 (LMX1B)
• Focal segmental glomerulosclerosis 8 (ANLN)
• Focal segmental glomerulosclerosis 9 (CRB2)
• Focal segmental glomerulosclerosis [panelapp red] (E2F3)
• Focal segmental glomerulosclerosis [panelapp red] (SYNPO)
• Galloway-Mowat syndrome 1 (WDR73)
• Galloway-Mowat syndrome 2, XL (LAGE3)
• Galloway-Mowat syndrome 3 (OSGEP)
• Galloway-Mowat syndrome 4 (TP53RK)
• Galloway-Mowat syndrome 5 (TPRKB)
• Galloway-Mowat syndrome 7 (NUP107)
• Galloway-Mowat syndrome 8 (NUP133)
• Glomerulopathy with fibronectin deposits 2 (FN1)
• Glomerulosclerosis, focal segmental, 1 (ACTN4)
• Glomerulosclerosis, focal segmental, 2 (TRPC6)
• Glomerulosclerosis, focal segmental, 3 (CD2AP)
• Glomerulosclerosis, focal segmental, 4, susceptibility to (APOL1)
• Glomerulosclerosis, focal segmental, 5 (INF2)
• Glomerulosclerosis, focal segmental, 6 (MYO1E)
• Glomerulosclerosis, focal segmental, 7 (PAX2)
• Glomerulotubular nephropathy [panelapp] (FAT1)
• Hemolytic uremic syndrome, atypical, susceptibility to, 7 (DGKE)
• Imerslund-Grasbeck syndrome 1 (CUBN)
• Interstitial lung disease, nephrotic syndrome, epidermolysis bullosa, congenital (ITGA3)
• Macrothrombocytopenia + granulocyte inclus. with/-out nephritis or sensorineural hearing loss (MYH9)
• Nail-patella syndrome (LMX1B)
• Nephronophthisis 12 (TTC21B)
• Nephronophthisis 4 (NPHP4)
• Nephrotic syndrome [panelapp] (LAMA5)
• Nephrotic syndrome [panelapp] (XPO5)
• Nephrotic syndrome, type 1 (NPHS1)
• Nephrotic syndrome, type 10 (EMP2)
• Nephrotic syndrome, type 11 (NUP107)
• Nephrotic syndrome, type 12 (NUP93)
• Nephrotic syndrome, type 13 (NUP205)
• Nephrotic syndrome, type 14 (SGPL1)
• Nephrotic syndrome, type 15 (MAGI2)
• Nephrotic syndrome, type 16 (KANK2)
• Nephrotic syndrome, type 17 (NUP85)
• Nephrotic syndrome, type 18 (NUP133)
• Nephrotic syndrome, type 19 (NUP160)
• Nephrotic syndrome, type 2 (NPHS2)
• Nephrotic syndrome, type 20 (TBC1D8B)
• Nephrotic syndrome, type 21 (AVIL)
• Nephrotic syndrome, type 3 (PLCE1)
• Nephrotic syndrome, type 4 (WT1)
• Nephrotic syndrome, type 5, with/-out ocular abnormalities (LAMB2)
• Nephrotic syndrome, type 6 (PTPRO)
• Nephrotic syndrome, type 7 (DGKE)
• Nephrotic syndrome, type 8 (ARHGDIA)
• Nephrotic syndrome, type 9 (COQ8B)
• Papillorenal syndrome (PAX2)
• Pierson syndrome (LAMB2)
• Proteinuria, chronic benign (CUBN)
• Proteinuric renal disease [panelapp] (GAPVD1)
• Schimke immunoosseous dysplasia (SMARCAL1)
• Senior-Loken syndrome 4 (NPHP4)
• Steroid-resistant nephrotic syndrome [GeneReviews] (ANKFY1)
• Ventriculomegaly with cystic kidney disease (CRB2)