제1형 신경 섬유종증 (Neurofibromatosis Type 1)에병합된 미세 변화성 신증후군 1예

• Published in: Kidney research and clinical practice pp. 1011 - 1014
• Main Authors: 이정욱, 정현철, 이수봉, 곽임수, 나하연
• Format: Journal Article
• Language: Korean
• Published: 대한신장학회 01.12.2002
• Subjects: 내과학
• ISSN: 2211-9132; 2211-9140

신경 피부 질환 중 가장 빈도가 높은 질환인 제 1형 신경섬유종증 (neurofibromatosis type 1)은 2,000내지 4,500명당 1명 정도의 발생 빈도를 보인다1). 어느 연령에서나 발병하고, 상염색체 우성 유전을 하며2), 전신 증상 중 신장에서는 신혈관성 고혈압 (renovascular hypertension)이 가장 흔하게 나타난다3). 기존 보고를 보면 일본, 헝가리 등에서 사구체성 질환이 직접적인 인과 관계가 밝혀지지 않은 채 병발한 예4-7)가 보고되어 있다. 저자들은 제1형 신경섬유종증 (Neurofibromatosis type 1)에 병합된 미세변화형 신증후군 1예를 경험하였기에 문헌 고찰과 함께 보고하는 바이다. Neurofibromatosis type 1 is the most common neurocutaneous disorders and affects between 1/2,000 and 1/4,500 people. This occurs at any age and is hereditary disease with autosomal dominant fashion. Renovascular hypertension is major form of renal manifestation of the disease. There are few reported cases in Japan and Hungary of Recklinghausen's neurofibromatosis with several glomerular lesions but their relationship is not apparent. A 21-year-old man was admitted to the hospital because of general edema. On admission, the blood pressure was 130/ 80 mmHg and general edema was noted. He had a plexiform neuroma on right flank and multiple cafe- au-lait spots on chest and extremites. Laboratory findings were as follows:Hemoglobin 14.2 g/dL, AST 28 IU/L, ALT 12 IU/L, albumin 1.2 gm/dL, total cholesterol 533 mg/dL, urinary protein 4.0 gm/ day, C3 86.6 mg/dL, C4 19.9 mg/dL, HBs Ag/Ab (＋/－), HBe Ag/Ab (＋/－), HCV Ab (－), HBV DNA probe 6,000 pg/mL. Renal biopsy was performed and the histological findings were compatible with minimal change disease. The immunohistochemical method revealed that HBsAg was negative. We experienced a case of minimal change disease concurrent with Neurofibromatosis type 1, but their relationship is not clear. We report this case with a brief review. KCI Citation Count: 0