著明な低Ca血症を伴った結節性硬化症の成人維持透析例

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  • A maintenance hemodialysis patient with tuberous sclerosis presenting as severe hypocalcemia.

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This case report describes a maintenance hemodialysis patient with tuberous sclerosis presenting as severe hypocalcemia. A 50.year-old woman was admitted to our institution because of chronic renal failure which had developed over a period of 5 years. At the age of 12 years she suffered seizures, but these were controlled with anticonvulsant drugs. Physical examination on admission revealed angiofibromas on the face, subungual fibromas and slight mental retarm dation. Abnormal laboratory findings were obtained as follows ; BUN 94.6 mg/ dl, Cr 7.6mg/dl, Ccr 3.8 ml/min, Ca 3.5 mg/dl, Pi 7.4 mg/dl, ALP 305 mIU, C-PTH 2.5 ng/dl, Hb 6.5g/dl and Ht 20% A diagnosis of tuberous sclerosis was reached based on the typicalskin lesions, mental deficiency, periventricular calcifications and phakomas in the retina, Angiomyolipomas and cystic lesions were found in both kidneys by ultrasound examination, computerized tomography scan and angiographyo The severe hypocalcemia may have been due to disturbance of 25-hydroxyvitamin D3-1..-hydroxylation and the influence of anticonvulsant drugs. The patient was treated by hemodialysis and followed an unemventful course for one year.

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