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Isolated autosomal recessive renal magnesium loss in two sisters
Author(s) -
Geven W. B.,
Monnens L. A. H.,
Willems J. L.,
Buijs W.,
Hamel C. J.
Publication year - 1987
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1987.tb03157.x
Subject(s) - hypomagnesemia , magnesium , magnesium deficiency (plants) , medicine , endocrinology , wasting , urine , calcium , kidney , biology , chemistry , organic chemistry
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.