지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 19 - 22 (4page)
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초록· 키워드
오류제보하기
Renal Fanconi syndrome(RFS) is caused by generalized proximal tubular dysfunction and can be divided into hereditary and acquired form. Adult-onset RFS is usually associated with drug toxicity or systemic disorders, and modern molecular genetics may explain the etiology of previous idiopathic cases of RFS. Here, we report the case of a 52-year-old woman with RFS whose etiology could not be identified. She presented with features of phosphaturia, renal glucosuria, aminoaciduria, tubular proteinuria, and proximal renal tubular acidosis. Her family history was unremarkable, and previous medications were nonspecific. Her bone mineral density was compatible with osteoporosis, serum intact parathyroid hormone level was mildly elevated, and 25(OH) vitamin D level was insufficient. Her blood urea nitrogen and serum creatinine levels were 8.4 and 1.19mg/dL, respectively(estimated glomerular filtration rate, 53mL/min/1.73m2). Percutaneous renal biopsy was performed but revealed no specific renal pathology, including mitochondrial morphology. No mutation was detected in EHHADH gene. We propose the possibility of involvement of other genes or molecules in this case of adult RFS.
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등록된 정보가 없습니다.
참고문헌 (16)
참고문헌 신청
Klootwijk ED / 2015 / Renal Fanconi syndrome: taking a proximal look at the nephron / Nephrol Dial Transplant 30:1456~1460
Dalmak S / 1996 / A case study of adult-onset hypophosphatemic osteomalacia with idiopathic fanconi syndrome / Nephron 72:121~122
Hall AM / 2014 / Drug-induced renal Fanconi syndrome / QJM 107:261~269
Lichter-Konecki U / 2001 / Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3 / Am J Hum Genet 68:264~268
Magen D / A loss-of-function mutation in NaPi- IIa and renal Fanconi’s syndrome / N Engl J Med 362:1102~1109
Dalmak S / 1996 / A case study of adult-onset hypophosphatemic osteomalacia with idiopathic fanconi syndrome / Nephron 72:121~122
Hall AM / 2014 / Drug-induced renal Fanconi syndrome / QJM 107:261~269
Lichter-Konecki U / 2001 / Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3 / Am J Hum Genet 68:264~268
Magen D / A loss-of-function mutation in NaPi- IIa and renal Fanconi’s syndrome / N Engl J Med 362:1102~1109
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