Klinische FragestellungArterienverkalkung im Kindesalter [generalisierte], Differentialdiagnose

NGS +

Früh einsetzende (in utero bis Kleinkindalter) Verkalkung und Stenose der mittleren und Großen Arterien. Atemnot, Herzinsuffizienz und systemischer Bluthochdruck.

NT5E Mutationen verursachen beim Erwachsenen Verkalkungen der Gelenke und Arterien mit wahrscheinlichem Beginn in der 2. Dekade.

ABCC6: Arterial calcification, generalized, of infancy, 2

ENPP1: Arterial calcification, generalized, of infancy, 1

• Alias Arterial calcification, idiopathic infantile
• Alias: Arteriopathy, occlusive infantile
• Alias: Idiopathic infantile arterial calcification
• Alias: Idiopathic obliterative arteriopathy
• Alias: Infantile arteriosclerosis
• Alias: Occlusive infantile arteriopathy
• Allelic: Cole disease [guttate hypopigmentation + punctate palmopantar keratoma] (ENPP1)
• Allelic: Diabetes mellitus, non-insulin-dependent, susceptibility to (ENPP1)
• Allelic: Hypophosphatemic rickets, AR, 2 (ENPP1)
• Allelic: Obesity, susceptibility to (ENPP1)
• Allelic: Pseudoxanthoma elasticum (ABCC6)
• Allelic: Pseudoxanthoma elasticum, forme fruste (ABCC6)
• Arterial calcification, generalized, of infancy, 1 (ENPP1)
• Arterial calcification, generalized, of infancy, 2 (ABCC6)
• Calcification of joints + arteries [often later onset] (NT5E)
• Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
• Guttate hypopigmentation, punctate palmoplatar keratoderma +/- ectopic cxalcification (ENPP1)
• Pseudo-TORCH syndrome 1 (OCLN)