Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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

Erbliche Gefäßerkrankungen
Arteriosklerose
Generalisierte arterielle Verkalkung bei Kleinkindern
Generalisierte arterielle Verkalkung bei Kleinkindern 1
ENPP1
Generalisierte arterielle Verkalkung bei Kleinkindern 2
ABCC6
Hereditäres Angioödem
Hereditäres Lymphödem
Venöse thromboembolische Erkrankungen

Referenzen:

1.

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

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2.

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

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3.

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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4.

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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5.

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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6.

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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7.

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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8.

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

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9.

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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10.

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

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11.

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

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12.

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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13.

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

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14.

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

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15.

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

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16.

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

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17.

Witzleben CL et al. (1970) Idiopathic infantile arterial calcification--a misnomer?

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18.

Bird T et al. (1974) Idiopathic arterial calcification in infancy.

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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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