IllnessNephrotic syndrome, infantile, Steroid-resistant; expanded panel

NGS +

{Sanger]

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.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: Meacham syndrome (WT1)
• Allelic: Mesothelioma, somatic (WT1)
• Allelic: Nail-patella syndrome (LMX1B)
• Allelic: Palmoplantar keratoderma + woolly hair (KANK2)
• Allelic: Wilms tumor, type 1 (WT1)
• Congenital disorder of glycosylation, type Ia (PMM2)
• Congenital disorder of glycosylation, type Ik (ALG1)
• Denys-Drash syndrome (WT1)
• Focal segmental glomerulosclerosis 10 (LMX1B)
• 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, 7 (DGKE)
• 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)
• Steroid-resistant nephrotic syndrome, nonsyndromic [genereviews] (ANKFY1)
• Steroid-resistant nephrotic syndrome, nonsyndromic [genereviews] (GAPVD1)
• Steroid-resistant nephrotic syndrome, syndromic [genereviews] (E2F3)