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.
Department of Pediatrics, University of Nijmegen, The Netherlands.
W B
WB
Geven
L A
LA
Monnens
J L
JL
Willems
W
W
Buijs
C J
CJ
Hamel
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