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Familial hypomagnesaemia--hypercalciuria leading to end-stage renal failure.

作者信息

Nicholson J C, Jones C L, Powell H R, Walker R G, McCredie D A

机构信息

Department of Nephrology, Royal Children's Hospital, Parkville, Victoria, Australia.

出版信息

Pediatr Nephrol. 1995 Feb;9(1):74-6. doi: 10.1007/BF00858976.

Abstract

Several disorders of hypomagnesaemia of hetary renal origin are now recognised. The cases of two sisters from a consanguineous marriage with the syndrome of renal magnesium wasting, hypercalciuria and nephrocalcinosis are presented. Pathological examination of the heterozygous parental kidneys revealed mild focal interstitial fibrosis. This condition is a previously unreported cause of end-stage renal failure in childhood, and this report suggests that transplantation from heterozygous parental donors can be successfully undertaken without recurrence of the syndrome.

摘要

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