Klinische FragestellungGlomerulonephritis, fokal segmental; Differentialdiagnose

NGS +

Glomerulonephritis ist ein pathologischer Befund bei verschiedenen Nierenerkrankungen, der sich klinisch als Proteinurie und 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)