Childhood Kidney Diseases

Korean Society of Pediatric Nephrology (대한소아신장학회)
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A Case of Moyamoya Disease Associated with Neurofibromatosis Type 1 in Patients with Renal Artery Stenosis and Hypertension

제 1형 신경섬유종증에 합병된 모야모야병에서 신장동맥 협착을 동반한 고혈압

  • Seo, Young Ho (Department of Pediatrics, College of Medicine, Korea University) ;
  • Yim, Hyung Eun (Department of Pediatrics, College of Medicine, Korea University) ;
  • Yoo, Kee Hwan (Department of Pediatrics, College of Medicine, Korea University)
  • 서영호 (고려대학교 의과대학 소아과학교실) ;
  • 임형은 (고려대학교 의과대학 소아과학교실) ;
  • 유기환 (고려대학교 의과대학 소아과학교실)
  • Received : 2013.10.08
  • Accepted : 2013.10.11
  • Published : 2013.10.31
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Abstract

Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous disorder, which can affect different organs or systems of the body, including the cardiovascular system. One of the more serious aspects of the disease relates to arterial involvement. In particular, renal artery stenosis is one of the most common vascular abnormalities in patients with NF-1, and the manifestations vary, ranging from no symptoms to end-stage renal failure. Treatment usually consists of antihypertensive drugs, percutaneous transluminal angioplasty, or surgery. Other causes of hypertension should be ruled out and the patient followed up for close monitoring and proper management. We report a case of bilateral renal artery stenosis and hypertension in a patient with moyamoya disease associated with neurofibromatosis type 1. This report discusses the literature available on the current subject, its clinical features, diagnosis, and treatment.

신경섬유종은 드문 전신 질환으로 여러 장기를 침범하며 특히 다양한 크기의 혈관을 침범하여 혈관병을 발생시켜 대동맥 협착, 모야모야병, 신동맥 협착 등을 일으킨다. 이로 인하여 약 0.4-6.4%의 환자에서 고혈압 증상이 있으며 이의 원인으로 신혈관 협착이 가장 흔하다. 특히 약물에도 조절되지 않는 고혈압은 혈관 협착 등이 원인이 될 수 있기 때문에 도플러 초음파 검사나 전산화 혈관 조영술 등의 정밀 검사가 필요하다. 이에 대한 치료는 약물 치료, 피부경유 혈관경유혈관성형술, 수술적 치료 등의 병합 요법으로 이루어지며 재협착 발생률이 높기 때문에 주의 깊은 추적 관찰이 필요하다. 본 저자들은 제 1형 신경섬유종증에 합병된 모야모야병에서 신장동맥 협착을 동반한 고혈압을 진단받고 치료한 1례를 경험하였기에 보고하는 바이다.

Keywords

References

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