Screening for CLCN5 mutation in renal calcium stone formers patients

Maria Alice P. Rebelo, Vera Tostes, Nordeval C. Araújo, Sabrina V. Martini, Bruno F. Botelho, William B. Guggino, Marcelo M. Morales

Research output: Contribution to journalArticle

Abstract

Thirty-five patients (23 males and 12 females), age 35 ± 13 years old, presenting either idiopathic calcium nephrolithiasis, nephrocalcinosis or mild renal failure with idiopathic calcium nephrolithiasis were selected for the analysis of low molecular weight proteinuria and the possible mutations occurrence in the chloride channel gene CLCN5. The urinary ratio of β2-microglobulin and creatinine (β2M/Cr) was very high in a transplanted woman with nephrocalcinosis (< 3.23 mg/mmol) and slightly high in five patients (> 0.052 or < 1.0 mg/mmol) with multiple urological manipulations. Other studied patients showed β2M/Cr ratio at normal range (0.003-0.052 mg/mmol) without gender difference (p > 0.05). Mutation analysis of CLCN5 gene was performed in 26 patients of 35 selected (11 with idiopathic hypercalciuria; 6 men with normal calciuria; 3 with mild renal insufficiency and 6 with nephrocalcinosis) and was normal in all subjects even in those with abnormal molecular weight proteinuria. Conclusion: CLCN5 gene mutation is not a common cause of kidney stone disease or nephrocalcinosis in a group of Brazilian patients studied.

Original languageEnglish (US)
Pages (from-to)95-101
Number of pages7
JournalAnais da Academia Brasileira de Ciencias
Volume77
Issue number1
DOIs
StatePublished - Mar 2005

Keywords

  • CLCN5 mutation
  • Low-molecular-weight proteinuria
  • Nephrocalcinosis
  • Nephrolithiasis

ASJC Scopus subject areas

  • General

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    Rebelo, M. A. P., Tostes, V., Araújo, N. C., Martini, S. V., Botelho, B. F., Guggino, W. B., & Morales, M. M. (2005). Screening for CLCN5 mutation in renal calcium stone formers patients. Anais da Academia Brasileira de Ciencias, 77(1), 95-101. https://doi.org/10.1590/S0001-37652005000100007