Isolated steroid-resistant nephrotic syndrome: Genetic causes and clinical characteristics

Gene	Inheritance	Kidney histology	Age at onset of proteinuria	Additional notes on clinical features	MIM number
NPHS1^*	AR	MCD, FSGS	0 to 10 years	Causes congenital nephrotic syndrome, Finnish type	#256300
NPHS2^*	AR	MCD, FSGS	0 to 40 years	Causes autosomal recessive SRNS	#600995
PLCE1	AR	DMS, FSGS	0 to 8 years		#610725
MYO1E	AR	FSGS	2 months to 9 years		#614131
CUBN	AR	MCD, rarely FSGS		May be associated with megaloblastic anemia because cubilin facilitates intestinal absorption of the vitamin B12 or intrinsic factor complex	#618884 #261100
ADCK4	AR	FSGS	<1 to 21 years
TTC21B	AR	FSGS and chronic tubulointerstitial nephritis	9 to 30 years
CRB2	AR	FSGS	9 months to 6 years
CD2AP	AR	FSGS	1 year
PTPRO	AR	MCD, FSGS	5 to 14 years
NUP85 NUP93 NUP107 NUP133 NUP160 NUP205 XP05	AR	FSGS or DMS	1 to 10.5 years^[1]	SRNS with ESKD in childhood may have partial response to cyclosporine	#618176 #616892 #616730 #618177 #618178 #616893
ACTN4	AD	FSGS	3 to 54 years
TRPC6	AD	FSGS	2 to 75 years
ARHGAP24	AD	FSGS	<12 to 20 years
ANLN	AD	FSGS	9 to 69 years	Childhood or adult-onset SRNS

AD: autosomal dominant; AR: autosomal recessive; DMS: diffuse mesangial sclerosis; ESKD: end-stage kidney disease; FSGS: focal segmental glomerulosclerosis; MCD: minimal change disease; MIM: Mendelian Inheritance in Man; SRNS: steroid-resistant nephrotic syndrome.

* Variants in these genes may be associated with congenital nephrotic syndrome.

Reference:

Han Y, Sha H, Yang Y, et al. Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children. Ital J Pediatr 2024; 50:81.

Graphic 107089 Version 2.0

خرید پکیج

Isolated steroid-resistant nephrotic syndrome: Genetic causes and clinical characteristics