烟雾病与RNF213 p.Arg4810Lys变异相关的全体性血管病变:综述

IF 1.9 Q2 MEDICINE, GENERAL & INTERNAL Precision and Future Medicine Pub Date : 2022-08-12 DOI:10.23838/pfm.2022.00009
Duk-Kyung Kim, S. Jang, Sung‐A Chang, T. Park
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引用次数: 3

摘要

Moyamoyadisease(MMD)isasteno-occlusivediseaseofthedistalcerebralarteries. Ringfingerprotein213(RNF213)p.Arg4810LysisasusceptibilitygeneofMMDforwhich relatedvasculopathiesarenotwellcharacterized.Heterozygouspatientsweremostly asymptomaticorexhibitedisolatedMMD.Homozygouspatientsshowedaveryunique patternofdiffusenarrowingoftheentireaortaalongwithstenosisofthesplanchnic, renal,coronary,iliofemoral,and/orperipheralpulmonaryarteries,regardlessofpres-enceorabsenceofMMD.RNF213p.Arg4810Lysisassociatedwithhighpenetranceof systemicvasculopathyinhomozygouspatientsandlowpenetranceofintracranialste-nosis,i.e.,MMD,inheterozygouspatients,whichsuggestsagene-dosageeffect.
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Systemic vasculopathy associated with an RNF213 p.Arg4810Lys variant in moyamoya disease: A review
Moyamoyadisease(MMD)isasteno-occlusivediseaseofthedistalcerebralarteries. Ringfingerprotein213(RNF213)p.Arg4810LysisasusceptibilitygeneofMMDforwhich relatedvasculopathiesarenotwellcharacterized.Heterozygouspatientsweremostly asymptomaticorexhibitedisolatedMMD.Homozygouspatientsshowedaveryunique patternofdiffusenarrowingoftheentireaortaalongwithstenosisofthesplanchnic, renal,coronary,iliofemoral,and/orperipheralpulmonaryarteries,regardlessofpres-enceorabsenceofMMD.RNF213p.Arg4810Lysisassociatedwithhighpenetranceof systemicvasculopathyinhomozygouspatientsandlowpenetranceofintracranialste-nosis,i.e.,MMD,inheterozygouspatients,whichsuggestsagene-dosageeffect.
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Precision and Future Medicine
Precision and Future Medicine MEDICINE, GENERAL & INTERNAL-
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审稿时长
10 weeks
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