Dent’s disease type 1 in a boy with severe hyperopia and mental dysfunction: a case report

摘要

Dent’s disease is a rare X-linked recessiveproximal tubulopathy. It is typically characterizedby low-molecular-weight (LMW) proteinuria,hypercalciuria, nephrocalcinosis, nephrolithiasis,hypophosphatemia, rickets and slowly progressiverenal failure. The laboratory and clinical featuresmay occur in various combinations. The earlydiagnosis of Dent’s disease is often problematicbecause affected children may have mild clinicaland biochemical signs, detecting LMW proteinuriais not available in many laboratories, and geneticresults are not clear in all cases. We report on a 12-year-old boy with Dent’s disease type 1, severehyperopia, and psychological dysfunction. To thebest of our knowledge, he is the first patient withmutation in CLCN5 gene and extrarenal symptomsdescribed so far.