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A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5.

Abstract：

UNLABELLED:Dent disease is an X-linked tubulopathy mainly caused by inactivating mutations of CLCN5. Features of Bartter syndrome such as hypokalemic metabolic alkalosis are rarely observed in patients with Dent disease. We report a Japanese male patient with Dent disease who also manifested features of Bartter syndrome. At the age of 3 years, he was diagnosed with Dent disease based on low molecular weight proteinuria and hypercalciuria. One year later, he was found to have features of Bartter syndrome, i.e., hypokalemia and metabolic alkalosis, and high levels of plasma renin activity and aldosterone with a normal blood pressure. Despite medical interventions, he developed chronic kidney disease stage 3 at the age of 21 years. To investigate the molecular basis of his disease, CLCN5, KCNJ1, SLC12A1, and CLCkb were analyzed and a novel mutation (Y567X) in CLCN5 was identified. CONCLUSION:Hypokalemic metabolic alkalosis is a rare manifestation in Dent disease. It is speculated that Dent patients with features of Bartter syndrome are susceptible to progression to renal failure. To study this hypothesis, additional observations and long-term follow-up of such patients are necessary.

journal_name

Eur J Pediatr

journal_title

European journal of pediatrics

authors

Okamoto T,Tajima T,Hirayama T,Sasaki S

doi

10.1007/s00431-011-1578-3

subject

Has Abstract

pub_date

2012-02-01 00:00:00

pages

401-4

issue

2

eissn

0340-6199

issn

1432-1076

journal_volume

171

pub_type

杂志文章

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