TY - JOUR
T1 - Nephrotic-range Albuminuria as the presenting symptom of Dent-2 disease
AU - De Mutiis, Chiara
AU - Pasini, Andrea
AU - La Scola, Claudio
AU - Pugliese, Fabrizio
AU - Montini, Giovanni
PY - 2015/6/25
Y1 - 2015/6/25
N2 - 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.
AB - 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.
KW - CLCN5
KW - Dent disease
KW - Hypercalciuria
KW - Low molecular weight proteinuria (LMWP)
KW - OCRL
KW - p.Arg318Cys
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U2 - 10.1186/s13052-015-0152-4
DO - 10.1186/s13052-015-0152-4
M3 - Article
AN - SCOPUS:84933512105
VL - 41
JO - Italian Journal of Pediatrics
JF - Italian Journal of Pediatrics
SN - 1720-8424
IS - 1
M1 - 46
ER -