Nephrotic-range Albuminuria as the presenting symptom of Dent-2 disease

Chiara De Mutiis, Andrea Pasini, Claudio La Scola, Fabrizio Pugliese, Giovanni Montini

Research output: Contribution to journalArticlepeer-review

Abstract

Dent disease is a rare X-linked tubulopathy with low molecular weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis and progressive renal failure. We describe the case of a 9-year-old boy who presented with nephrotic-range albuminuria at the age of 3 years. In the absence of a clear diagnosis, a renal biopsy was performed at 4 years, which revealed minimal change disease. Due to the presence of low molecular weight proteinuria, even in the absence of hypercalciuria, a diagnosis of Dent disease was considered. While there were no mutations in the CLCN5 gene, the diagnosis was confirmed by the presence of a missense mutation (p.Arg318Cys) in the OCRL gene. Conclusion: Given the large phenotypic variability of the disease and based on our experience, we believe that children with low molecular weight proteinuria, even without hypercalciuria, should be investigated for Dent disease.

Original languageEnglish
Article number46
JournalItalian Journal of Pediatrics
Volume41
Issue number1
DOIs
Publication statusPublished - Jun 25 2015

Keywords

  • CLCN5
  • Dent disease
  • Hypercalciuria
  • Low molecular weight proteinuria (LMWP)
  • OCRL
  • p.Arg318Cys

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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