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Первинна гіпомагніємія з гіперкальціурією та нефрокальцинозом

ORPHA:306516· ICD-10 E83.4· Primary hypomagnesemia with hypercalciuria and nephrocalcinosis

Визначення(English summary)

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms).

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Childhood, Infancy