ErkrankungGlomerulonephritis, fokal segmental; Differentialdiagnose

NGS +

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

• Allelic: Brain small vessel disease 2 (COL4A2)
• Allelic: Cystinosis, ocular nonnephropathic (CTNS)
• Allelic: Deafness, XL 6 (COL4A6)
• Allelic: Denys-Drash syndrome (WT1)
• Allelic: Fabry disease, cardiac variant (GLA)
• Allelic: Frasier syndrome (WT1)
• Allelic: Meacham syndrome (WT1)
• Allelic: Mesothelioma, somatic (WT1)
• Allelic: Nail-patella syndrome (LMX1B)
• Allelic: Ovarian dysgenesis 6 (NUP107)
• Allelic: Palmoplantar keratoderma woolly hair (KANK2)
• Allelic: Short-rib thoracic dysplasia 4 with/-out polydactyly (TTC21B)
• Allelic: Wilms tumor, type 1 (WT1)
• Alport syndrome 1, XL (COL4A5)
• Alport syndrome 2, AR (COL4A3, COL4A4)
• Alport syndrome 3, AD (COL4A3)
• Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
• Cystinosis, atypical nephropathic (CTNS)
• Cystinosis, late-onset juvenile or adolescent nephropathic (CTNS)
• Cystinosis, nephropathic (CTNS)
• Fabry disease (GLA)
• Focal segmental glomerulosclerosis + neurodevelopmental syndrome (TRIM8)
• Focal segmental glomerulosclerosis 10 (LMX1B)
• Focal segmental glomerulosclerosis 8 (ANLN)
• Focal segmental glomerulosclerosis 9 (CRB2)
• Galloway-Mowat syndrome 7 (NUP107)
• 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)
• Hematuria, benign familial (COL4A3, COL4A4)
• Nephronophthisis 12 (TTC21B)
• 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 15 (MAGI2)
• Nephrotic syndrome, type 16 (KANK2)
• Nephrotic syndrome, type 2 (NPHS2)
• Nephrotic syndrome, type 3 (PLCE1)
• Nephrotic syndrome, type 4 (WT1)
• Nephrotic syndrome, type 6 (PTPRO)
• Nephrotic syndrome, type 8 (ARHGDIA)