Familial hypomagnesaemia - hypercalciuria - nephrocalcinosis (Q99740): Difference between revisions
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Revision as of 16:24, 16 August 2026
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a progressive renal disease, characterised by hypomagnesemia, hypercalciuria and nephrocalcinosis. Recurrent urinary tract infections and kidney stones are often observed, and in one third to half of the patients, ocular abnormalities such as horizontal nystagmus, myopia, corneal calcifications and chorioretinitis are observed.
| Language | Label | Description | Also known as |
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| default for all languages | ID_85589118 |
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| English | Familial hypomagnesaemia - hypercalciuria - nephrocalcinosis |
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a progressive renal disease, characterised by hypomagnesemia, hypercalciuria and nephrocalcinosis. Recurrent urinary tract infections and kidney stones are often observed, and in one third to half of the patients, ocular abnormalities such as horizontal nystagmus, myopia, corneal calcifications and chorioretinitis are observed. |
