Abstract
Background
Dent’s disease is a rare X-linked recessive hereditary disease caused by mutations in either the CLCN5 or OCRL1 genes. This disease is characterized by manifestations of proximal renal tubule dysfunction associated with low molecular weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure.
Methods
We report a Chinese boy with Dent’s disease, clinically diagnosed by LMWP and hypercalciuria. Genetic analysis was made of the CLCN5 and OCRL1 genes. Related studies were also reviewed.
Results
A splice site mutation IVS6, +2T>C of the CLCN5 gene was revealed in this case, and it was not reported previously.
Conclusions
Clinical and genetic analysis is valuable for the diagnosis of Dent’s disease. A novel mutation in the CLCN5 gene was identified in our patient.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
References
Scheinman SJ. X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int 1998;53:3–17.
Wrong OM, Norden AG, Feest TG. Dent’s disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. QJM 1994;87:473–493.
Okamoto T, Tajima T, Hirayama T, Sasaki S. A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5. Eur J Pediatr 2012;171:401–404.
Ludwig M, Utsch B, Monnens LA. Recent advances in understanding the clinical and genetic heterogeneity of Dent’s disease. Nephrol Dial Transplant 2006;21:2708–2717.
Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, et al. Dent Disease with mutations in OCRL1. Am J Hum Genet 2005;76:260–267.
Dent CE, Friedman M. Hypercalcuric rickets associated with renal tubular damage. Arch Dis Child 1964;39:240–249.
Wu F, Reed AA, Williams SE, Loh NY, Lippiat JD, Christie PT, et al. Mutational Analysis of CLC-5, Cofi lin and CLC-4 in Patients with Dent’s disease. Nephron Physiol 2009;112:53–62.
Shrimpton AE, Hoopes RR Jr, Knohl SJ, Hueber P, Reed AA, Christie PT, et al. OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability. Nephron Physiol 2009;112:27–36.
Zhu BZ, Li P, Huang JP. Clinical and genetic analysis of Dent’s disease in 6 Chinese children with low molecular weight proteinuria. Zhonghua Er Ke Za Zhi 2010;48:329–333. [in Chinese]
Zhang YQ, Wang F, Ding J, Yan H, Yang YL. Novel OCRL mutations in Chinese children with Lowe syndrome. World J Pediatr 2013;9:53–57.
Tosetto E, Ghiggeri GM, Emma F, Barbano G, Carrea A, Vezzoli G, et al. Phenotypic and genetic heterogeneity in Dent’s disease, the results of an Italian collaborative study. Nephrol Dial Transplant 2006;21:2452–2463.
Cho HY, Lee BH, Choi HJ, Ha IS, Choi Y, Cheong HI. Renal manifestations of Dent disease and Lowe syndrome. Pediatr Nephrol 2008;23:243–249.
Grand T, Mordasini D, L’Hoste S, Pennaforte T, Genete M, Biyeyeme MJ, et al. Novel CLCN5 mutations in patients with Dent’s disease result in altered ion currents or impaired exchanger processing. Kidney Int 2009;76:999–1005.
Scheinman SJ, Cox JP, Lloyd SE, Pearce SH, Salenger PV, Hoopes RR, et al. Isolated hypercalciuria with mutation in CLCN5: Relevance to idiopathic hypercalciuria. Kidney Int 2000;57:232–239.
Frishberg Y, Dinour D, Belostotsky R, Becker-Cohen R, Rinat C, Feinstein S, et al. Dent’s disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg?. Pediatr Nephrol 2009;24:2369–2373.
Claverie-Martín F, Ramos-Trujillo E, García-Nieto V. Dent’s disease: clinical features and molecular basis. Pediatr Nephrol 2011;26:693–704.
Cebotaru V, Kaul S, Devuyst O, Cai H, Racusen L, Guggino WB, et al. High citrate diet delays progression of renal insufficiency in the CIC-5 knockout mouse model of Dent’s disease. Kidney Int 2005;68:642–652.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Ji, LN., Chen, CY., Wang, JJ. et al. A novel CLCN5 mutation in a Chinese boy with Dent’s disease. World J Pediatr 10, 275–277 (2014). https://doi.org/10.1007/s12519-014-0504-y
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12519-014-0504-y