Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Synonyms: FHHNC | Michellis-Castrillo syndrome
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).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Primary hypomagnesemia with hypercalciuria and nephrocalcinosis?
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