Gitelman syndrome and chondrocalcinosis. A clinical case review
REVISTA DE OSTEOPOROSIS Y METABOLISMO MINERAL(2015)
摘要
Gitelman syndrome is a tubulopathy of autosomal recessive inheritance which presents with, among other manifestations, hypomagnesemia and hypocalciuria. We present the case of a woman of 68 years of age who came for a consultation due to arthritis in the large joints, in the absence of other symptomology. The X-ray study showed deposits of calcium pyrophosphate in the knees, pubic symphysis and other joints. Blood tests revealed hypomagnesemia and hypocalciuria compatible with Gitelman syndrome, which was confirmed following a genetic study.
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关键词
Gitelman syndrome,chondrocalcinosis,hypomagnesemia
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