Cargando…

A case of Type 1 Dent disease presenting with isolated persistent proteinuria

Dent disease is a rare X-linked recessive tubular disorder, characterized by the triad of low molecular-weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis. It is caused by mutations in the CLCN5 gene or OCRL gene. Thirty to 80% of affected males develop end-stage kidney dise...

Descripción completa

Detalles Bibliográficos
Autores principales: Güngör, Tülin, Eroğlu, Fehime Kara, Yazılıtaş, Fatma, Gür, Gökçe, Çakıcı, Evrim Kargın, Ludwig, Michael, Bülbül, Mehmet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kare Publishing 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7096570/
https://www.ncbi.nlm.nih.gov/pubmed/32231453
http://dx.doi.org/10.5152/TurkPediatriArs.2018.6540
Descripción
Sumario:Dent disease is a rare X-linked recessive tubular disorder, characterized by the triad of low molecular-weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis. It is caused by mutations in the CLCN5 gene or OCRL gene. Thirty to 80% of affected males develop end-stage kidney disease between the ages of 30 and 50 years. Some children were reported to present with isolated persistent proteinuria and a part of these patients were diagnosed as having focal segmental glomerulosclerosis with kidney biopsy. Although there is no specific treatment, treatment of proteinuria and hypercalciuria is thought to delay the progression of the disease. For this reason, awareness of the disease findings and early diagnosis are important. In this case report, we present a boy followed-up with isolated persistent proteinuria and then diagnosed as having Dent disease with mutation analysis that showed c.328_330delT (p.Phe110Trpfs27*) in the CLCN5 gene. The importance of researching low-molecular- weight proteinuria and considering Dent disease in the differential diagnosis of children presenting with isolated persistent proteinuria has been emphasized.