Trends in pediatric nephrotic syndrome

Table 1 Genetic forms of podocytopathies

Gene	Inheritance	OMIM ID	Pathology	Function	Features
NPHS1	AR	602716	FSGS/MCD	Slit membrane	Congenital. Finish type
NPHS2	AR	604766	FSGS/MCD	Slit membrane	Develop ESRD in the first or second decades
CD2AP	AR	607832	FSGS	Slit membrane	Severe early-onset SRNS
CRB2	AR	609720	FSGS	Slit membrane	Child onset SRNS
FAT1	AR	600976	FSGS	Slit membrane	First or second decade onset SRNS. Tubular ectasia, haematuria and facultative neurological involvement
TRPC6	AD	603652	FSGS	Slit membrane	Both child and adult onset SRNS
MYO1E	AR	601479	FSGS	Actin binding	Child onset SRNS
PLCE1	AR	608414	FSGS/MCD	Actin binding	Infantile to child onset SRNS
INF2	AD	613237	FSGS	Actin binding	Complicated by Charcot-Marie-Tooth disease
ACTN4	AD	604638	FSGS	Actin binding	Adult onset SRNS
MYH9	AD	160775	FSGS/MCD	Actin binding	Complicated by Epstein syndrome
ANLN	AD	616027	FSGS	Actin binding	Both child and adult onset SRNS
KANK1	AR	607704	MCD	Actin regulation
KANK2	AR	614610	MCD	Actin regulation	Early-onset SSNS
KANK4	AR	614612	FSGS	Actin regulation	Early-onset SRNS
ARHGDIA	AR	601925	FSGS/DMS	Actin regulation	Onset age is younger than 3 yr
ITSN1	AR	602442	FSGS/MCD	Actin regulation	SSNS
ITSN2	AR	604464	FSGS	Actin regulation	SSNS
MAGI2	AR	606382	MCD	Actin regulation	SSNS
TNS2	AR	607717	FSGS/MCD	Actin regulation	SSNS
DLC1	AR	604258	FSGS	Actin regulation	SSNS
ARHGAP24	AD	610586	FSGS	Actin regulation
LAMB2	AR	609049	DMS/FSGS	Integrin and laminin	Pierson syndrome
ITGA3	AR	605025	FSGS	Integrin and laminin	Infantile onset SRNS. Congenital interstitial lung disease and mild epidermolysis bullosa
ITGB4	AR	147557	FSGS	Integrin and laminin	Congenital or infantile onset SRNS. Epidermolysis bullosa and pyloric atresia
WT1	AD	256370	DMS/FSGS	Nucleus	Denys-Drash syndrome. Frasier syndrome. Wilms tumor
LMX1B	AD	161200	FSGS/MCD	Nucleus	Nail-patella syndrome
SMARCAL1	AR	606622	FSGS	Nucleus	Schimke immunoosseous dysplasia
NUP93	AR	614351	FSGS	Nucleoporins	Child onset SRNS
NUP107	AR	607617	FSGS	Nucleoporins	Child onset SRNS
NUP205	AR	614352	FSGS	Nucleoporins	Early onset SRNS
XPO5	AR	607845	FSGS	Nucleoporins	Speech development delay
COQ2	AR	609825	FSGS/CG	CoQ10 biosynthesis	Early-onset NS
COQ6	AR	624647	FSGS	CoQ10 biosynthesis	Early-onset NS. Hearing loss
PDSS2	AR	610564	FSGS	CoQ10 biosynthesis	Leigh syndrome
MTTL1	AR	590050	FSGS	CoQ10 biosynthesis
SGPL1	AR	603729	FSGS	S1P metabolism	Hyperpigmentation, increased ACTH, hypoglycemia, and hypocalcemia with seizures, ichthyosis, primary hypothyroidism and developmental delay
SCARB2	AR	602257	FSGS	Lysosome	Progressive myoclonic epilepsy

FSGS: Focal segmental glomerulosclerosis; MCD: Minimal change disease; ESRD: End-stage renal disease; ACTH: Adrenocorticotropic hormone; SRNS: Steroid-resistant nephrotic syndrome; DMS: Diffuse mesangial sclerosis; CG: Collapsing glomerulopathy.