A Case of Neurofibromatosis Type 1 Associated with Minimal Change Disease.
- Author:
Joung Wook LEE
1
;
Hyun Chul JUNG
;
Soo Bong LEE
;
Ihm Soo KWAK
;
Ha Yeon RHA
Author Information
1. Department of Internal Medicine, College of Medicine, Pusan National University, Pusan, Korea. hyrha@pusan.ac.kr
- Publication Type:Case Report
- Keywords:
Neurofibromatosis type 1;
Minimal change disease;
Chronic Hepatitis B
- MeSH:
Biopsy;
Blood Pressure;
Cholesterol;
DNA;
Edema;
Genetic Diseases, Inborn;
Hepatitis B Surface Antigens;
Hepatitis B, Chronic;
Humans;
Hungary;
Hypertension, Renovascular;
Japan;
Nephrosis, Lipoid*;
Neurocutaneous Syndromes;
Neurofibroma, Plexiform;
Neurofibromatoses*;
Neurofibromatosis 1*;
Thorax;
Young Adult
- From:Korean Journal of Nephrology
2002;21(6):1011-1014
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
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.
