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Commentary

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

Ido Refaeli, Michael R. Hughes, Kelly M. McNagny
Clinical Science Feb 08, 2019, 133 (3) 443-447; DOI: 10.1042/CS20181067
Ido Refaeli
The Biomedical Research Centre, University of British Columbia, Vancouver, Canada
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Michael R. Hughes
The Biomedical Research Centre, University of British Columbia, Vancouver, Canada
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Kelly M. McNagny
The Biomedical Research Centre, University of British Columbia, Vancouver, Canada
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  • http://orcid.org/0000-0003-4737-3499
  • For correspondence: kelly@brc.ubc.ca
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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].

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  • Table 1 Urinary podocalyxin concentration in glomerulonephritis
    IndicationStudyuPODXL 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
    ObesitySuwanpen et al. [23]A higher number of PODXL-positive cells in urine correlates with higher BMI (r = 0.343, p = 0.008)
    • BMI, body mass index; cf., compare to; Cr, creatinine; uAQP2, urinary aquaporin-2; uPODXL, urinary podocalyxin.

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February 2019

Volume: 133 Issue: 3

Clinical Science: 133 (3)
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The first identified heterozygous nonsense mutations in podocalyxin offer new perspectives on the biology of podocytopathies
Ido Refaeli, Michael R. Hughes, Kelly M. McNagny
Clinical Science Feb 2019, 133 (3) 443-447; DOI: 10.1042/CS20181067
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The first identified heterozygous nonsense mutations in podocalyxin offer new perspectives on the biology of podocytopathies
Ido Refaeli, Michael R. Hughes, Kelly M. McNagny
Clinical Science Feb 2019, 133 (3) 443-447; DOI: 10.1042/CS20181067

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Keywords

focal segmental glomerulosclerosis
glomerulonephritis
nephrotic syndrome
podocalyxin
podocytopathy
podocytes

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