The first identified heterozygous nonsense mutations in podocalyxin offer new perspectives on the biology of podocytopathies

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Figure 1 Mapping of AD and recessive mutations in human podocalyxin associated with familial podocytopathies
P.M1I and p.W341X exhibited an autosomal recessive inheritance and were identified as compound heterozygous in a Korean child born with congenital nephrotic syndrome, omphalocele, and microcoria [12]. p.326X and p.S378X are dominant mutations associated with familial FSGS in the Chinese and Indian pedigrees described by Lin et al., respectively [1]. p.S214R, p.L474R, p.M484I, PE492X, and p.K515R were identified by Barua et al. FSGS pedigrees bearing AD inheritance patterns [5].

Table 1 Urinary podocalyxin concentration in glomerulonephritis

Indication	Study	uPODXL Concentration
Diabetic nephropathy (DN)	Hara et al. [19]	27.3 ± 3.3 ng/μmol Cr (cf. 7.1± 0.5 in healthy controls)
	Shoji et al. [21]	58.9 mg/g Cr in diabetic patients with macroalbuminuria (2-fold more than patients with normoalbuminuria)
Focal segmental glomerulosclerosis (FSGS)	Hara et al. [19]	37.1 ± 11.7 ng/μmol Cr (cf. 7.1± 0.5 in healthy controls)
	Zhu et al. [20]	10.6-fold increase in uPODXL/uAQP2 concentration relative to healthy controls
Membranous nephropathy (MN)	Hara et al. [19]	71.4 ± 3.8 ng /μmol Cr (cf. 7.1± 0.5 in healthy controls)
	Zhu et al. [20]	4.4-fold increase in uPODXL/uAQP2 concentration relative to healthy controls
Lupus nephritis (LN)	Hara et al. [19]	44.3 ± 10.8 ng/μmol Cr (cf. 7.1± 0.5 in healthy controls)
	Ikuma et al. [18]	311.0 (155.8-633.5) μg/g Cr in LN patient group (cf. 127.0 (69.3–177.0) in lupus patients without nephritis)
	Zhu et al. [20]	5.9-fold increase in uPODXL/uAQP2 concentration relative to healthy controls
IgA nephropathy (IgAN)	Hara et al. [19]	14.4 ± 10 ng/μmol Cr (cf. 7.1± 0.5 in healthy controls)
	Asao et al. [22]	82 μg/g Cr in patients with IgAN and FSGS with poor prognosis (cf. 50 for patients with good prognosis)
IgM nephropathy (IgMN)	Zhu et al. [20]	9.8-fold increase in uPODXL/uAQP2 concentration relative to healthy controls
Obesity	Suwanpen et al. [23]	A higher number of PODXL-positive cells in urine correlates with higher BMI (r = 0.343, p = 0.008)