Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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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.

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

None (1974) Idiopathic arterial calcification in infancy.

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

OMIM.ORG article

Omim 208000 external link
25.

Orphanet article

Orphanet ID 51608 external link
Update: 14. August 2020
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