Primary hypomagnesemia with hypercalciuria and nephrocalcinosis

Orpha code: 306516OMIM code:

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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