A sibling with Dent disease without mutations of OCRL1 and CLCN5

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  • ＯＣＲＬ１およびＣＬＣＮ５に遺伝子変異を認めないＤｅｎｔ病の兄妹例

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Abstract

 Dent disease is characterized by progressive proximal renal tubulopathy with hypercalciuria, low-molecular-weight proteinuria, and nephrocalcinosis. While nearly 60% of cases are reported to be caused by mutations in CLCN5 gene located on Xp11.22 and 10∼15% of cases are caused by mutations in OCRL1 gene located on Xq26.1, causes of the remaining 25∼30% of cases are still unknown.<br> We here report the case of sibling with Dent disease having no mutations of OCRL1 and CLCN5 and suggest an autosomal fashion of inheritance of this disease.<br> Case report: A 13 year-old brother and his 10-year-old sister were referred to us for further evaluation of asymptomatic tubular proteinuria detected at school screening program in Japan. Their past medical histories and family history were unremarkable. They were the first and the third products of the five siblings by healthy unrelated Japanese parents. Their physical examinations at referral revealed no abnormal findings whereas their urinary findings demonstrated increased concentrations of β2-microglobulin (β2MG) without significant hematuria or hypercalciuria. Blood tests showed normal values including serum creatinine, electrolytes, and proteins and ultrasound examinations did not detect any abnormal findings on their urinary tracts. Urinary levels of β2MG in their mother and other siblings were also within normal values.<br> Based on these findings, the diagnoses of Dent disease were made on them. They have been followed-up periodically for 3 years by now to check their values of urinary β2MG which revealed consistent abnormal values: the brother demonstrated the values between 560μg/L and 1,830μg/L (normal: 30∼340μg/L) while the sister's values varied from 317μg/L to 23,550μg/L. Their sequence analyses of CLCN5 and OCRL1 did not show any mutations. Thus, we suggest that some patients with Dent disease show autosomal inheritance.

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