Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Generalisierte arterielle Verkalkung bei Kleinkindern

Die generalisierte arterielle Kalzifikation im frühen Kindesalter ist eine Gruppe rezessiver Erkrankungen die häufig auch mit einem Pseudoxanthoma elesticum vergesellschaftet sind.

Gliederung

Vaskuläre Kalzifikation
Calciphylaxie
Generalisierte arterielle Verkalkung bei Kleinkindern
Generalisierte arterielle Verkalkung bei Kleinkindern 1
ENPP1
Generalisierte arterielle Verkalkung bei Kleinkindern 2
ABCC6
Multiple Kalzifikation der Gelenke und Arterien

Referenzen:

1.

Lorenz-Depiereux B et al. (2010) Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.

external link
2.

Sholler GF et al. (1984) Generalized arterial calcification of infancy: three case reports, including spontaneous regression with long-term survival.

external link
3.

Milner LS et al. (1984) Hypertension as the major problem of idiopathic arterial calcification of infancy.

external link
4.

Marrott PK et al. () Idiopathic infantile arterial calcification with survival to adult life.

external link
5.

Maayan C et al. (1984) Idiopathic infantile arterial calcification: a case report and review of the literature.

external link
6.

Raphael SS et al. (1970) Arterial medial calcification of infancy in brothers.

external link
7.

None (1974) Idiopathic arterial calcification in infancy.

external link
8.

None (1970) Idiopathic infantile arterial calcification--a misnomer?

external link
9.

Meradji M et al. (1978) Idiopathic infantile arterial calcification in siblings: radiologic diagnosis and successful treatment.

external link
10.

Anderson KA et al. (1985) Idiopathic arterial calcification of infancy in newborn siblings with unusual light and electron microscopic manifestations.

external link
11.

Van Dyck M et al. (1989) Idiopathic infantile arterial calcification with cardiac, renal and central nervous system involvement.

external link
12.

Stuart G et al. (1990) Idiopathic infantile arterial calcification in two siblings: failure of treatment with diphosphonate.

external link
13.

Rutsch F et al. (2008) Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.

external link
14.

MENTON ML et al. (1948) Coronary sclerosis in infancy; report of three autopsied cases, two in siblings.

external link
15.

Cheng KS et al. (2005) Generalized arterial calcification of infancy: different clinical courses in two affected siblings.

external link
16.

MORAN JJ et al. (1959) Idiopathic arterial calcification of infancy; report of 2 cases occurring in siblings, and review of the literature.

external link
17.

HUNT AC et al. (1957) Generalized arterial calcification of infancy.

external link
18.

Nitschke Y et al. (2012) Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

external link
19.

Le Boulanger G et al. (2010) An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.

external link
20.

Okawa A et al. (1998) Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine.

external link
21.

Dlamini N et al. (2009) Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications.

external link
22.

Rutsch F et al. (2001) PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification.

external link
23.

Rutsch F et al. (2003) Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

external link
24.

OMIM.ORG article

Omim 208000 external link
25.

Orphanet article

Orphanet ID 51608 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz