Dear Editor,Dent disease is a rare X-linked recessive disease that was first reported by Charles Enrique Dent and M.Friedman in 1964(Dent and Friedman,1964).Dent disease is caused by mutations in the CLCN5(Dent diseas...Dear Editor,Dent disease is a rare X-linked recessive disease that was first reported by Charles Enrique Dent and M.Friedman in 1964(Dent and Friedman,1964).Dent disease is caused by mutations in the CLCN5(Dent disease 1)or OCRL1(Dent disease 2).The condition is characterized by proximal renal tubular dysfunction that manifests as low molecular weight proteinuria(LMWP),hypercalciuria,nephrocalcinosis or nephrolithiasis,and progressive renal failure.Typically,the total protein excretion in tubular proteinuria is lower than that in glomerular diseases;therefore,nephrotic range proteinuria(NP)is not prevalent in patients with documented CLCN5 or OCRL1 mutations.Here,we report the cases of six Chinese children with Dent disease who manifested NP and were finally diagnosed using genetic analysis.Our aim was to elucidate the characteristics of Dent disease in Shaanxi area to facilitate possible improvements in its detection and treatment.展开更多
基金funded by the Natural Science Foundation of Shaanxi Province (S2018-JC-YB-2307)
文摘Dear Editor,Dent disease is a rare X-linked recessive disease that was first reported by Charles Enrique Dent and M.Friedman in 1964(Dent and Friedman,1964).Dent disease is caused by mutations in the CLCN5(Dent disease 1)or OCRL1(Dent disease 2).The condition is characterized by proximal renal tubular dysfunction that manifests as low molecular weight proteinuria(LMWP),hypercalciuria,nephrocalcinosis or nephrolithiasis,and progressive renal failure.Typically,the total protein excretion in tubular proteinuria is lower than that in glomerular diseases;therefore,nephrotic range proteinuria(NP)is not prevalent in patients with documented CLCN5 or OCRL1 mutations.Here,we report the cases of six Chinese children with Dent disease who manifested NP and were finally diagnosed using genetic analysis.Our aim was to elucidate the characteristics of Dent disease in Shaanxi area to facilitate possible improvements in its detection and treatment.
