Korean J Nephrol.  2002 Nov;21(6):1011-1014.

A Case of Neurofibromatosis Type 1 Associated with Minimal Change Disease

• Lee JW
• Jung HC
• Lee SB
• Kwak IS
• Rha HY

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.

Keyword

Neurofibromatosis type 1; Minimal change disease; Chronic Hepatitis B

MeSH Terms

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
Cholesterol
DNA
Hepatitis B Surface Antigens