Abstract:

Objective To summarize the clinical data of five cases of Dent-1 disease so as to improve our understanding of the disease. Methods Clinical data of five cases with Dent-1 disease were summarized, including clinical manifestations, laboratory findings and renal pathological changes. Mutation analysis on CLCN5 and OCRL genes was performed by direct sequencing in these families. Related literatures of Dent-1 disease were reviewed and the phenotypes and genotypes were summarized. Results Laboratory findings of five patients showed 24-hr urine protein ranged from 33.0 to 68.9 mg·kg-1, and high levels of urinary α1-microglobulin, albuminuria, immunoglobulin G and hypercalciuria, and one patient with microscopic haematuria and other two patients with nephrocalcinosis. Five CLCN5 mutations were detected, including R637X, Y479X, G530V, W103fsX104 and R707X, respectively. Y479X, G530V and W103fsX104 were novel mutations. Among 260 articles related to Dent's disease, we found 72 case reports or case series of Dent-1 disease including 598 patients, 422 from Europe and America and 176 from Asia. Except low-molecular-weight proteinuria, the incidence between Europe and America cases and Asia cases of hypercalciuria, nephrocalcinosis, rickets and renal insufficiency were statistically significantly different. No significant correlations between phenotypes and genotypes in all cases were found, including nonsense mutations, missense mutations and frameshift mutations. Conclusion Clinical diagnosis of Dent-1 disease should be confirmed by CLCN5 mutation test to avoid unnecessary immunosuppressants therapy. CLCN5 mutations show high heterogenetic, and the relationships between the phenotypes and genotypes of Dent-1 disease are not found yet.