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Neurofibromatosis complicated with XXX syndrome and renovascular hypertension
Author(s) -
WATANO K.,
OKAMOTO H.,
TAKAGI C.,
MATSUO H.,
HIRAO N.,
KITABATAKE A.
Publication year - 1996
Publication title -
journal of internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.625
H-Index - 160
eISSN - 1365-2796
pISSN - 0954-6820
DOI - 10.1046/j.1365-2796.1996.422778000.x
Subject(s) - medicine , neurofibromatosis , renovascular hypertension , nephrectomy , renal artery stenosis , surgery , autotransplantation , kidney , iliac fossa , revascularization , renal artery , radiology , transplantation , myocardial infarction
A 25‐year‐old woman with neurofibromatosis was admitted to our hospital for evaluation of hypertension. When she was 6 years old, she was diagnosed as having neurofibromatosis and XXX syndrome because of multiple café‐au‐lait spots, neurofibromas of the skin and mental retardation. Chromosome analysis revealed that her karyotype was 46, XX/47, XXX. Renal arteriography disclosed aneurysmal change and stenosis of the right renal artery. After right‐side nephrectomy and aneurysmectomy, the kidney was autotransplanted in the left iliac fossa. Surgical procedure resulted in marked amelioration of the hypertension without medical treatment. Thus, aortorenal bypass and renal autotransplantation have emerged as the preferred revascularization operations. This is the first report of a chromosomal linkage between neurofibromatosis which is thought to be an autosomal dominant disease and the XXX syndrome.