Primary hypomagnesemia with hypercalciuria and nephrocalcinosis

Orpha code: 306516OMIM code:

Definition

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).

Disease data
Classification

Disease

Synonyms
FHHNC
FHHNC
Zespół Michellisa i Castrillo
Pierwotna hipomagnezemia z hipekalciurią i nefrokalcynozą
Michellis-Castrillo syndrome
ORPHA code
306516
OMIM code
-
ICD10 code
E83.4
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl