Dent’s disease type 1 in a boy with severe hyperopia and mental dysfunction: a case report

• Authors: A. Sobieszczańska-Droździel , P. Sikora , M. Majewski , M. Ludwig , A. Matera , M. Zajączkowska
• Languages of publication: EN

Abstracts

Dent’s disease is a rare X-linked recessive proximal tubulopathy. It is typically characterized by low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, hypophosphatemia, rickets and slowly progressive renal failure. The laboratory and clinical features may occur in various combinations. The early diagnosis of Dent’s disease is often problematic because affected children may have mild clinical and biochemical signs, detecting LMW proteinuria is not available in many laboratories, and genetic results are not clear in all cases. We report on a 12- year-old boy with Dent’s disease type 1, severe hyperopia, and psychological dysfunction. To the best of our knowledge, he is the first patient with mutation in CLCN5 gene and extrarenal symptoms described so far.

Keywords

EN

dent’s disease; low-molecular-weight proteinuria; CLCN5 gene; hypercalciuria; nephrocalcinosis; hyperopia

• Publisher: Uniwersytet Medyczny w Białymstoku
• Journal: Progress in Health Sciences
• Year: 2014
• Volume: 4
• Issue: 1
• Pages: 273-276

Contributors

author

A. Sobieszczańska-Droździel

author

P. Sikora

author

M. Majewski

author

M. Ludwig

author

A. Matera

author

M. Zajączkowska

References

• Claverie-Martin F, Ramos-Trujillo E, Garcia-Nieto V. Dent’s disease: clinical features and molecular basis. Pediatr Nephrol. 2011May; 26(5):693-704.
• Sahay M. Diseases of Renal Parenchyma. In Tech. Rijeka (Croatia): 2012. Chapter 2, Dent’s disease; p. 17-32.
• Bockenhauer D, Bokenkamp A, Nuutinen M, Unwin R, van't Hoff W, Sirimanna T, Vrljicak K, Ludwig M. Novel OCRL mutations in patients with Dent-2 disease. J Pediat Genet. 2012;1:15-23.
• Addis M, Meloni C, Tosetto E, Ceol M, Cristofaro R, Melis MA, Vercelloni P, Del Prete D, Marra G, Anglani F, An atypical Dent’s disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes. Eur J Hum Genet. 2013 Jun;21(6):687-90.
• Frishberg Y, Dinour D, Belostotsky R, Becker-Cohen R, Rinat C, Feinstein S, Navon-Elkan P, Ben-Shalom E. Dent’s disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg? Pediatr Nephrol. 2009 Dec;24(12): 2369-73.
• Amnigeri RA, Rajagopalan R. Hypo-phosphatemic rickets due to Dent’s disease: A case report and review of literature. Indian J Nephrol. 2009 Oct; 19(4):163-6.
• Weyer K, Nielsen R, Petersen SV, Christensen EI, Rehling M, Birm H. Renal Uptake of 99mTc-Dimercaptosuccinic Acid Is Dependent on Normal Proximal Tubule Receptor- Mediated Endocytosis. J Nucl Med. 2012 Dec; 54(1):1-7.
• Becker-Cohen R, Rinat Ch, Ben-Shalom E, Feinstein S, Ivgi H, Frishberg V. Vitamin A deficiency associated with urinary retinol binding protein wasting in Dent’s disease. Pediatr Nephrol. 2012 Jul; 27(7):1097-102.
• Vaisbich MH, dos Santos-Henriques L, Igarashi T, Sekine T, Seki G, Koch VH. The long term use of enalapril and hydrochlorothiazide in two novel mutations patient with Dent’s disease type 1. J Bras Nefrol. 2012 Jan-Mar;34(1):78-81.
• Cebotaru V, Kaul S, Devuyst O, Cai H, Racusen L, Guggino WB, Guggino SE. High citrate diet delays progression of renal insufficiency in the CIC-5 knockout mouse model in Dent’s disease. Kidney Int. 2005 Aug; 68(2): 642-52.