Familial hypomagnesaemia--hypercalciuria leading to end-stage renal failure.
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.
Nicholson
J C
JC
Department of Nephrology, Royal Children's Hospital, Parkville, Victoria, Australia.
Jones
C L
CL
Powell
H R
HR
Walker
R G
RG
McCredie
D A
DA
D002118:Calcium / Q000652:urine*; D002648:Child; D003241:Consanguinity; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology* / Q000628:therapy; D016030:Kidney Transplantation / Q000502:physiology; D008274:Magnesium / Q000097:blood*; D008664:Metal Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics* / Q000378:metabolism; D009397:Nephrocalcinosis / Q000209:etiology
D008274:Magnesium; D002118:Calcium