Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Generalisierte arterielle Verkalkung bei Kleinkindern 1

Generalisierte arterielle Kalzifikation im frühen Kindesalter 1 ist eine autosomal rezessive Erkrankung die durch Mutationen im ENPP1-Gen hervorgerufen wird. Der klinische Verlauf ist selbst unter Geschwistern variabel.

Gliederung

Generalisierte arterielle Verkalkung bei Kleinkindern
Generalisierte arterielle Verkalkung bei Kleinkindern 1
ENPP1
Generalisierte arterielle Verkalkung bei Kleinkindern 2

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.

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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7.

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

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8.

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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9.

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

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10.

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

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11.

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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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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

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