IllnessNephrotic syndrome, infantile, Steroid-resistant

NGS +

Steroid-resistant nephrotic syndrome (SRNS) is defined as nephrotic syndrome (NS) that is unresponsive to steroid therapy. The majority of children presenting with idiopathic NS have minimal disease that is responsive to steroid therapy. However, 10-20% of patients do not respond to initial steroid treatment. One-third of steroid-resistant cases are due to single gene mutations that affect glomerular podocyte structure and/or function. Patients with genetic forms of SRNS usually do not respond to immunosuppressive therapy, the disease progresses rapidly, and the risk of disease relapse is low. Therefore, therapeutic decisions in children with SRNS are based on the underlying etiology. 50% of patients with SRNS will progress to end-stage renal disease. The DNA diagnostic yield is 30% in SRNS. A negative molecular genetic result does not constitute exclusion of the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5774596/

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

• ...ad nomenclature: depending on 1. publication/quotation -> either designated as FSGS or SRNS
• Alias: Focal Segmental GlomeruloSklerosis, FSGS
• Alias: Steroid-Resistant Nephrotic Syndrome, SRNS
• Allelic: Blood group, Raph (CD151)
• Allelic: Charcot-Marie-Tooth disease, dominant intermediate E (INF2)
• Allelic: Deafness, AD 17 (MYH9)
• Allelic: Hemolytic uremic syndrome, atypical, susceptibility to, 7 (DGKE)
• Allelic: Multiple system atrophy, susceptibility to (COQ2)
• Allelic: Nail-patella syndrome (LMX1B)
• Allelic: Ovarian dysgenesis 6 (NUP107)
• Allelic: Palmoplantar keratoderma and woolly hair (KANK2)
• Allelic: Short-rib thoracic dysplasia 4 with/-out polydactyly (TTC21B)
• Allelic: Ventriculomegaly with cystic kidney disease (CRB2)
• Alport syndrome 1, XL (COL4A5)
• Alport syndrome 2, AR (COL4A3)
• Alport syndrome 2, AR (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)
• Duane retraction syndrome 3 (MAFB)
• End-stage renal disease, nondiabetic, susceptibility to (APOL1)
• Epidermolysis bullosa of hands + feet (ITGB4)
• Epidermolysis bullosa simplex 7, with nephropathy + deafness (CD151)
• Epidermolysis bullosa, junctional, non-Herlitz type (ITGB4)
• Epidermolysis bullosa, junctional, with pyloric atresia (ITGB4)
• Epilepsy, progressive myoclonic 4, with/-out renal failure (SCARB2)
• Focal segmental glomerulosclerosis 10 (LMX1B)
• Focal segmental glomerulosclerosis 8 (ANLN)
• Focal segmental glomerulosclerosis 9 (CRB2)
• Focal segmental glomerulosclerosis [genereviews] (ARHGAP24)
• 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)
• 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)
• Hematuria, benign familial (COL4A3)
• Hematuria, familial benign (COL4A4)
• Interstitial lung disease, nephrotic syndrome + epidermolysis bullosa, congenital (ITGA3)
• Interstitial lung disease, nephrotic syndrome, epidermolysis bullosa, congenita (ITGA3)
• Macrothrombocytopenia + granulocyte inclusions +/- nephritis or sensorineural hearing loss (MYH9)
• Multicentric carpotarsal osteolysis syndrome (MAFB)
• Nephronophthisis 12 (TTC21B)
• Nephrotic syndrome (LAMA5)
• Nephrotic syndrome (PODXL)
• Nephrotic syndrome (TNS2)
• 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 22 (NOS1AP)
• 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 syn ADCK4)
• Papillorenal syndrome (PAX2)
• Pierson syndrome (LAMB2)
• Schimke immunoosseous dysplasia (SMARCAL1)
• Steroid-resistant nephrotic syndrome, nonsyndromic [genereviews] (ANKFY1)
• Steroid-resistant nephrotic syndrome, nonsyndromic [genereviews] (GAPVD1)
• Steroid-resistant nephrotic syndrome, nonsyndromic [genereviews] (XPO5)
• Steroid-resistant nephrotic syndrome, syndromic [genereviews] (E2F3)
• Steroid-resistant nephrotic syndrome, syndromic [genereviews] (MAFB)
• Steroid-resistant nephrotic syndrome, syndromic [genereviews] (NXF5)
• Syndactyly with/-out nephropathy [panelapp] (FAT1)