Isolated autosomal recessive renal magnesium loss in two sisters.
A familial autosomal recessive form of isolated renal magnesium loss is presented. Two children in this family suffered from convulsions unrelated to hypomagnesemia. Magnesium infusion studies revealed a lowered threshold but a normal tubular maximum for magnesium. In contrast to two families with the autosomal dominant form of isolated renal magnesium wasting, the calcium excretion in the urine was normal.
Geven
W B
WB
Department of Pediatrics, University of Nijmegen, The Netherlands.
Monnens
L A
LA
Willems
J L
JL
Buijs
W
W
Hamel
C J
CJ
D002118:Calcium / Q000097:blood; D002648:Child; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007668:Kidney / Q000378:metabolism*; D007677:Kidney Function Tests; D008275:Magnesium Deficiency / Q000235:genetics*; D011188:Potassium / Q000097:blood; D012640:Seizures / Q000235:genetics; D012964:Sodium / Q000097:blood
D012964:Sodium; D011188:Potassium; D002118:Calcium