ISSN 1306-0015 | E-ISSN 1308-6278
Case Report
A case of Type 1 Dent disease presenting with isolated persistant proteinuria
1 Department of Pediatric Nephrology, Dr. Sami Ulus Maternity, Children's Health and Diseases Training and Research Hospital, Ankara, Turkey  
2 Department of Clinical Chemistry and Clinical Pharmacology, Bonn University, Bonn, Germany  
Turk Pediatri Ars ; : -
DOI: 10.5152/TurkPediatriArs.2018.6540
Key Words: Dent Disease, isolated persistant proteinuria, hypercalciuria

Dent disease is a rare X-linked recessive tubular disorder, characterized by the triad of low molecular-weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis caused by CLCN5 or OCRL gene mutations. Some children were reported to present with isolated persistant proteinuria, diagnosed as focal segmental glomerulosclerosis with kidney biopsy.  Thirty to 80 % of affected males develop end-stage renal disease between ages 30 and 50 years. Treatment of proteinuria and hypercalciuria is thought to delay the progression of the disease. For this reason, it is important to be aware of the disease findings and early diagnosis. In this case report, we presented a boy presented with isolated persistent proteinuria and diagnosed as Dent disease with mutation analysis showing c.328_330delT (p.Phe110Trpfs27*)  in CLCN5  gene. The importance of researching low molecular weight proteinuria and considering Dent disease in differential diagnosis has been emphasized in children presenting with isolated persistant proteinuria.

Key Words
Author’s Corner
AVES | Copyright © 2018 Turkish Pediatrics Association | Latest Update: 03.10.2018