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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 53 - 56 (4page)
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초록· 키워드
오류제보하기
MYH9-related disorder is an autosomal dominant disease caused by a mutation inthe MYH9 gene, which encodes nonmuscle myosin heavy chain IIA (NMMHC-IIA).
This disease is characterized by giant platelets, thrombocytopenia, granulocyteinclusion bodies, proteinuria, and high-pitch sensorineural deafness. Nephropathyhas been observed in 30% of patients with MYH9-related disorder. The characteristicfeatures are early onset proteinuria and rapidly progressing renal disorder. However,the prognosis of MYH9 nephropathy remains unclear. Herein, we describe a36-year-old woman who presented with proteinuria and was diagnosed with MYH9nephropathy via renal biopsy and gene analysis. Her proteinuria improved afteradministration of an angiotensin II receptor blocker, but was aggravated afterchanging to a calcium channel blocker.
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등록된 정보가 없습니다.
참고문헌 (9)
참고문헌 신청
Arrondel C / 2002 / Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes / J Am Soc Nephrol 13:65~74
Seri M / 2003 / MYH9-related disease : May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness / Medicine (Baltimore) 82:203~215
Han KH / 2011 / Renal manifestations of patients with MYH9-related disorders / Pediatr Nephrol 26:549~555
Ghiggeri GM / 2003 / Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA(Fechtner syndrome) / Am J Kidney Dis 41:95~104
Gopalakrishnan I / 2011 / Coincident idiopathic focal segmental glomerulosclerosis collapsing variant and diabetic nephropathy in an African American homozygous for MYH9 risk variants / Hum Pathol 42:291~294
Seri M / 2003 / MYH9-related disease : May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness / Medicine (Baltimore) 82:203~215
Han KH / 2011 / Renal manifestations of patients with MYH9-related disorders / Pediatr Nephrol 26:549~555
Ghiggeri GM / 2003 / Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA(Fechtner syndrome) / Am J Kidney Dis 41:95~104
Gopalakrishnan I / 2011 / Coincident idiopathic focal segmental glomerulosclerosis collapsing variant and diabetic nephropathy in an African American homozygous for MYH9 risk variants / Hum Pathol 42:291~294
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