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Saudi Journal of Kidney Diseases and Transplantation
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LETTER TO THE EDITOR Table of Contents   
Year : 2010  |  Volume : 21  |  Issue : 1  |  Page : 155-156
Dent's disease and lowe's syndrome: A phenotypic spectrum of one gene


Department of Nephrology, All India Institute of Medical Sciences, New Delhi, India

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Date of Web Publication8-Jan-2010
 

How to cite this article:
Gupta A, Bhowmik DM, Khaira A, Singh B, Tiwari SC. Dent's disease and lowe's syndrome: A phenotypic spectrum of one gene. Saudi J Kidney Dis Transpl 2010;21:155-6

How to cite this URL:
Gupta A, Bhowmik DM, Khaira A, Singh B, Tiwari SC. Dent's disease and lowe's syndrome: A phenotypic spectrum of one gene. Saudi J Kidney Dis Transpl [serial online] 2010 [cited 2020 Sep 28];21:155-6. Available from: http://www.sjkdt.org/text.asp?2010/21/1/155/58794
To the Editor,

It is important to distinguish Dent's disease from Lowe's syndrome [Table 1]. A relatively new terminology identifying an intermediate phenotype called Dent's disease 2 has been adopted. It shares same genetic loci as Lowe's syndrome but has a phenotypic heterogeneity. Thus these disorders could be a spectrum of unifying disease process and still require fur­ther elucidation of their phenotypic-genotypic correlations.

The genetic heterogeneity in Dent's disease and phenotypic variability in Lowe's syndrome were recently established. [1] Wrong et al repor­ted that patients with his set of Dent's disease typically do not have proximal renal tubular acidosis or extra-renal manifestations. [2] How­ever, a recent identification of genes and their mutations have led to change in terminology of these disorders. The classic Dent's disease caused by mutations of CLCN5 gene is termed as Dent's disease 1 (OMIM #300009) and those due to mutations of OCRL1 gene as Dent's di­sease 2 (OMIM #300555). This intermediate phenotype of Dent's disease 2 needs to be di­fferentiated from Oculo-cerebro-renal syndrome of Lowe (OMIM #309000) [Table 1].

OCRL1 gene mutations in Lowe's syndrome are located in exons 8-23. While frameshift mu­tations or splice defects leading to formation of stop codon, cluster in exons 5-7 and missense mutations in exons 9-15 of same OCRL1 gene and are responsible for Dent's disease 2. The similar renal presentations of Dent's disease 2 and Lowe's syndrome suggest that ClC-5 chlo­ride channels and PIP 2 -5 phosphatases are both related to recycling of megalin and cubulin and such a dysregulation of actin dynamics could be a common phenomenon. [3] Despite the simi­larity in renal manifestations of both disorders, patients with Dent's disease 2 do not have ca­taract or metabolic acidosis. Probably there is variation in other gene(s) providing cerebral and ocular protection.

To conclude, a patient presenting with Dent's disease be sought for extra-renal manifestations, for it could be the intermediate phenotype of Dent's disease 2. Phenotype-genotype correla­tions in Dent's disease and Lowe's syndrome need further elucidation.



 
   References Top

1.Cho HY, Lee BH, Choi HJ, Ha IS, Choi Y, Cheong HI. Renal manifestations of Dent's disease and Lowe syndrome. Pediatr Nephrol 2008;23:243-9.  Back to cited text no. 1  [PUBMED]  [FULLTEXT]  
2.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. Q J Med 1994;87:473-93.  Back to cited text no. 2      
3.Levtchenko E, Monnens L. Evaluation of the proximal tubular function in hereditary renal Fanconi syndrome. Nephrol Dial Transplant 2008;23:2719-22.  Back to cited text no. 3      

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Correspondence Address:
Ankur Gupta
Department of Nephrology, All India Institute of Medical Sciences, New Delhi
India
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PMID: 20061714

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