Dent disease:classification,heterogeneity and diagnosis

Background Dent disease is a rare tubulopathy characterized by manifestations of proximal tubular dysfunction,which occurs almost exclusively in males.It mainly presents symptoms in early childhood and may progress to end-stage renal failure between the 3rd and 5th decades of human life.According to its various genetic basis and to clinical signs and symp-toms,researchers define two forms of Dent disease(Dent diseases 1 and 2)and suggest that these forms are produced by mutations in the CLCN5 and OCRL genes,respectively.Dent diseases 1 and 2 account for 60% and 15% of all Dent disease cases,and their genetic cause is generally understood.However,the genetic cause of the remaining 25% of Dent disease cases remains unidentified.Data sources All relevant peer-reviewed original articles published thus far have been screened out from PubMed and have been referenced.Results Genetic testing has been used greatly to identify mutation types of CLCN5 and OCRL gene,and next-generation sequencing also has been used to identify an increasing number of unknown genotypes.Gene therapy may bring new hope to the treatment of Dent disease.The abuse of hormones and immunosuppressive agents for the treatment of Dent disease should be avoided to prevent unnecessary harm to children.Conclusions The current research progress in classification,genetic heterogeneity,diagnosis,and treatment of Dent disease reviewed in this paper enables doctors and researchers to better understand Dent disease and provides a basis for improved prevention and treatment.

Glomerular podocyte dysfunction in inherited renal tubular disease

Background Hereditary renal tubular disease can cause hypercalciuria,acid-base imbalance,hypokalemia,hypomagnesemia,rickets,kidney stones,etc.If these diseases are not diagnosed or treated in time,they can cause kidney damage and electrolyte disturbances,which can be detrimental to the maturation and development of the child.Glomerular involvement in renal tubular disease patients has only been considered recently.Methods We screened 71 papers(including experimental research,clinical research,etc.)about Dent's disease,Gitelman syndrome,and cystinosis from PubMed,and made reference.Results Glomerular disease was initially underestimated among the clinical signs of renal tubular disease or was treated merely as a consequence of the tubular damage.Renal tubular diseases affect glomerular podocytes through certain mechanisms resulting in functional damage,morphological changes,and glomerular lesions.Conclusions This article focuses on the progress of changes in glomerular podocyte function in Dent disease,Gitelman syndrome,and cystinosis for the purposes of facilitating clinically accurate diagnosis and scientific treatment and improving prognosis.