Familial hypomagnesaemia - hypercalciuria - nephrocalcinosis (Q99740): Difference between revisions

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Latest 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
default for all languages	ID_85589118
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.