성인에서 악성고혈압을 동반한 누난증후군
A Case of Noonan Syndrome Presenting with Malignant Hypertension in an Adult
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
본 저자들은 호흡곤란과 악성고혈압으로 내원한 27세 남자에 대해 이차성고혈압을 의심하에 평가하던 중 전형적인이학적 소견 및 PS 및 HCMP 소견을 통해 NS로 최종 진단된환자에서 신동맥협착 소견이 동반된 증례를 문헌고찰과 함께보고한다. 한편 환자에게 동반된 소견 중 폐협착에 대해서는경피적 풍선 폐동맥판막성형술을 통한 시술로 해결하였으며신동맥협착 소견에 대해서는 약물치료를 계획하였다.
Abstract
Noonan syndrome is an autosomal dominant disorder characterized by dysmorphic facial features, congenital heart defects and short stature. To date, renal artery stenosis has not been associated with Noonan syndrome. We report the case of a 27-year old male who presented with malignant hypertension associated with renal artery stenosis, dysmorphic facial features, pectus excavatum, pulmonary stenosis and hypertrophic cardiomyopathy who was diagnosed with Noonan syndrome.
참고문헌 (9)
- Agarwal P, "The other side of Turner’s: Noonan’s syndrome", Indian J Endocrinol Met, 17, pp.794~798 (2013)
- Romano AA, "Noonan syndrome:clinical features, diagnosis, and management guidelines", Pediatrics, 126, pp.746~759 (2010)
- van der Burgt I, "Clinical and molecular studies in a large Dutch family with Noonan syndrome", Am J Med Genet, 53, pp.187~191 (1994)
- Aoki Y, "The RAS", MAPK syndromes: novel roles of the RAS pathway in human genetic disorders, 2008, pp.29, 992~1006
- Lin AE, "Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras", MAPK pathway syndrome, 2011, pp.155A, 486~507
- Tartaglia M, "PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity", Am J Hum Genet, 70, pp.1555~1563 (2002)
- Alanay Y, "Noonan syndrome and systemic lupus erythematosus: presentation in childhood", Clin Dysmorphol, 13, pp.161~163 (2004)
- Sharland M, "A clinical study of Noonan syndrome", Arch Dis Child, 67, pp.178~183 (1992)