Klinische FragestellungNephrotisches Syndrom, infantil, Steroid-resistentes; DD erweitertes panel

NGS +

{Sanger]

Das Steroid-resistente nephrotische Syndrom (SRNS) ist definiert als nephrotisches Syndrom (NS), das auf eine Steroid-Therapie nicht anspricht. Die Mehrheit der Kinder, die mit idiopathischem NS vorgestellt werden, haben eine minimale Erkrankung, die auf eine Steroid-Therapie anspricht. Allerdings sprechen 10-20% der Patienten nicht auf die erste Steroidbehandlung an. Ein Drittel der steroidresistenten Fälle ist auf einzelne Genmutationen zurückzuführen, die die glomeruläre Podozytenstruktur und/oder -funktion beeinflussen. Patienten mit genetischen Formen der SRNS sprechen in der Regel nicht auf eine immunsuppressive Therapie an, die Krankheit schreitet schnell voran, das Risiko eines Krankheitsrückfalls ist gering. Daher basieren die therapeutischen Entscheidungen bei Kindern mit SRNS auf der zugrundeliegenden Ätiologie. 50% der Patienten mit SRNS werden zu einer Nierenerkrankung im Endstadium entwickeln. Die DNA-diagnostische Ausbeute ist bei SRNS 30%. Ein negatives molekulargenetisches Ergebnis stellt keinen Ausschluss der klinischen Diagnose dar.

Referenz: https://www.uptodate.com/contents/steroid-resistant-idiopathic-nephrotic-syndrome-in-children-management/print

• Alias: Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
• Alias: Steroid-resistent nephrotic syndrome, SRNS
• Alias: focal segmental glomerulosclerosis, FSGS
• Allelic: Alzheimer disease 2 (APOE)
• Allelic: Alzheimer disease, protection against, due to APOE3-Christchurch (APOE)
• Allelic: Basal laminar drusen (CFH)
• Allelic: Cardiomyopathy, dilated, 1A (LMNA)
• Allelic: Cerebral palsy, spastic quadriplegic, 2 (KANK1)
• Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Allelic: Coronary artery disease, severe, susceptibility to (APOE)
• Allelic: Duane retraction syndrome 3 (MAFB)
• Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
• Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Allelic: Epidermolysis bullosa, junctional 5A, intermediate (ITGB4)
• Allelic: Epidermolysis bullosa, junctional 5B, with pyloric atresia (ITGB4)
• Allelic: Fish-eye disease (LCAT)
• Allelic: Heart-block disorder [panelapp] (NXF5)
• Allelic: Heart-hand syndrome, Slovenian type (LMNA)
• Allelic: Hutchinson-Gilford progeria (LMNA)
• Allelic: Hyperlipoproteinemia, type III (APOE)
• Allelic: Hypophosphatemic rickets (CLCN5)
• Allelic: Macular degeneration, age-related (APOE)
• Allelic: Macular degeneration, age-related, 4 (CFH)
• Allelic: Mandibuloacral dysplasia (LMNA)
• Allelic: Meacham syndrome (WT1)
• Allelic: Mesothelioma, somatic (WT1)
• Allelic: Multicentric carpotarsal osteolysis syndrome (MAFB)
• Allelic: Muscular dystrophy, congenital (LMNA)
• Allelic: Nail-patella syndrome (LMX1B)
• Allelic: Nephrolithiasis, type I (CLCN5)
• Allelic: Norum disease (LCAT)
• Allelic: Palmoplantar keratoderma + woolly hair (KANK2)
• Allelic: Restrictive dermopathy 1 (ZMPSTE24)
• Allelic: Restrictive dermopathy 2 (LMNA)
• Allelic: Sea-blue histiocyte disease (APOE)
• Allelic: Wilms tumor, type 1 (WT1)
• Complement factor H deficiency (CFH)
• Congenital disorder of glycosylation, type Ia (PMM2)
• Congenital disorder of glycosylation, type Ik (ALG1)
• Dent disease 1 (CLCN5)
• Dent disease 2 (OCRL)
• Denys-Drash syndrome (WT1)
• Fabry disease (GLA)
• Fabry disease, cardiac variant (GLA)
• Focal segmental Glomerulosklerosis [panelapp] (LMNA)
• Focal segmental glomerulosclerosis + neurodevelopmental syndrome (TRIM8)
• Focal segmental glomerulosclerosis 10 (LMX1B)
• Focal segmental glomerulosclerosis [panelapp] (ARHGAP24)
• Focal segmental glomerulosclerosis [panelapp] (NXF5)
• Focal segmental glomerulosclerosis [panelapp] (SYNPO)
• Focal segmental glomerulosklerosis [panelapp] with Duane retraction syndrome (MAFB)
• Frasier syndrome (WT1)
• Galloway-Mowat syndrome 2, XL (LAGE3)
• Galloway-Mowat syndrome 3 (OSGEP)
• Galloway-Mowat syndrome 5 (TPPRKB)
• Galloway-Mowat syndrome 8 (NUP133)
• Galloway-Mowat syndrome [MONDO:0009627] (GON7)
• Galloway-Mowat syndrome [panelapp] (YRDC)
• Glomerulosclerosis, focal segmental, 1 (ACTN4)
• Glomerulosclerosis, focal segmental, 2 (TRPC6)
• Glomerulosclerosis, focal segmental, 3 (CD2AP)
• Glomerulosclerosis, focal segmental, 5 (INF2)
• Glomerulosclerosis, focal segmental, 6 (MYO1E)
• Glomerulosclerosis, focal segmental, 7 (PAX2)
• Glomerulosclerosis, focal segmental, 8 (ANLN)
• Glomerulosclerosis, focal segmental, 9 (CRB2)
• Hemolytic uremic syndrome, atypical, susceptibility to, 1 (CFH)
• Hemolytic uremic syndrome, atypical, susceptibility to, 7 (DGKE)
• LCAT deficiency [panelapp] (LCAT)
• Lipodystrophy, familial partial, type 2 (LMNA)
• Lipoprotein glomerulopathy (APOE)
• Lowe syndrome (OCRL)
• Malouf syndrome (LMNA)
• Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
• Methylmalonic aciduria and homocystinuria, cblC type (MMACHC)
• 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 23 (KIRREL1)
• Nephrotic syndrome, type 24 (DDAM2)
• 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)
• Pierson syndrome (LAMB2)
• Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis (CLCN5)
• Steroid sensitive resistant nephrotic syndrome [panelapp] (KANK1)
• Steroid-resistant nephrotic syndrome, nonsyndromic [genereviews] (ANKFY1)
• Steroid-resistant nephrotic syndrome, nonsyndromic [genereviews] (GAPVD1)
• Steroid-resistant nephrotic syndrome, syndromic [genereviews] (E2F3)