Data di Pubblicazione:
2015
Citazione:
Nephrotic-range Albuminuria as the presenting symptom of Dent-2 disease / C. De Mutiis, A. Pasini, C. La Scola, F. Pugliese, G. Montini. - In: THE ITALIAN JOURNAL OF PEDIATRICS. - ISSN 1824-7288. - 41(2015 Jun 25). [10.1186/s13052-015-0152-4]
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Dent disease; low molecular weight proteinuria (LMWP); hypercalciuria; OCRL; CLCN5; p.Arg318Cys
Elenco autori:
C. De Mutiis, A. Pasini, C. La Scola, F. Pugliese, G. Montini
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