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

Italian Journal of Pediatrics

Giovanni Montini¹  Fabrizio Pugliese¹  Claudio La Scola¹  Andrea Pasini¹  Chiara De Mutiis¹ 

[1] Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliero-Universitaria Sant’Orsola-Malpighi Bologna, Via Massarenti 11, Bologna, 40138, Italy

关键词: p.Arg318Cys;    CLCN5;    OCRL;    Hypercalciuria;    Low molecular weight proteinuria (LMWP);    Dent disease;   

Others  :  1216056
DOI  :  10.1186/s13052-015-0152-4

 received in 2015-04-19, accepted in 2015-06-16,  发布年份 2015

【 摘 要 】

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.

【 授权许可】

   
2015 De Mutiis et al.

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