Pediatric Nephrology

, 24:2369

Dent’s disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg?

  • Yaacov Frishberg
  • Dganit Dinour
  • Ruth Belostotsky
  • Rachel Becker-Cohen
  • Choni Rinat
  • Sofia Feinstein
  • Paulina Navon-Elkan
  • Efrat Ben-Shalom
Original Article

Abstract

Dent’s disease is an X-linked proximal tubulopathy. It often manifests in childhood with symptoms of Fanconi syndrome and low-molecular-weight proteinuria. We describe four boys from three unrelated families whose only presenting symptoms of Dent’s disease were nephrotic-range proteinuria and histological findings of focal segmental and/or global glomerulosclerosis. In all families, a causal mutation in the CLCN5 gene, encoding a voltage-gated chloride transporter and chloride-proton exchanger, was identified. All three mutations are pathogenic: two are novel (p.Asp727fs and p.Trp122X), and one is a recurrent mutation, p.R648X. Given the atypical phenotype of these patients with Dent’s disease, it is possible that this clinical entity is markedly underdiagnosed and that our report represents only the tip of the iceberg. The diagnosis of Dent’s disease should be considered in all patients with nephrotic-range proteinuria without hypoalbuminemia or edema. Establishing the diagnosis of Dent’s disease will prevent the administration of unnecessary immunosuppressive medications with their undesirable side effects.

Keywords

Dent’s Nephrotic proteinuria Children Focal glomerulosclerosis CLCN5 mutations 

Supplementary material

467_2009_1299_MOESM1_ESM.doc (62 kb)
Supplementary TableQuantitative measurement of the urinary amino acid profile indexed to creatinine excretion (DOC 61 kb)

Copyright information

© IPNA 2009

Authors and Affiliations

  • Yaacov Frishberg
    • 1
  • Dganit Dinour
    • 2
  • Ruth Belostotsky
    • 1
  • Rachel Becker-Cohen
    • 1
  • Choni Rinat
    • 1
  • Sofia Feinstein
    • 1
  • Paulina Navon-Elkan
    • 1
  • Efrat Ben-Shalom
    • 1
  1. 1.Division of Pediatric NephrologyShaare Zedek Medical Center and the Hebrew University-Hadassah School of MedicineJerusalemIsrael
  2. 2.Department of Nephrology and Hypertension, Chaim Sheba Medical CenterTel-Hashomer and Tel Aviv UniversityTel AvivIsrael

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