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

ABSTRACT:

Unlabelled

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,

SUBMITTER: De Mutiis C 

PROVIDER: S-EPMC4479313 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature