Chikashi Kitoh

Compound heterozygote of cholesteryl-ester transfer protein deficiency in a patient with hyperalphalipoproteinemia

Familial hyperalphalipoproteinemia is transmitted as an autosomal dominant trait associated with longevity. A deficiency of plasma cholesteryl ester transfer protein (CETP) is one of the genetic causes of increased plasma high density lipoprotein (HDL) cholesterol levels. A splicing defect (G A mutation) at the +l position of intron 14 of the human CETP gene is a common mutation in the Japanese population [ 1,2]. We reported a patient with familial hyperalphalipoproteinemia indicating only one-tenth of the normal level of cholesteryl-ester transfer activity (CETA) [3]. Here, we measured the plasma concentration of cholesteryl-ester transfer protein(CETP) and analyzed the common CETP gene mutation in this patient and his relatives using monoclonal antibodies [2].

A Patient with Autosomal Dominant Polycystic Kidney Disease Undergoing CAPD Complicated by Intracystic Hemorrhage: Successful Treatment by Alcohol Sclerotherapy

Accessible online at: www.karger.com/journals/nef Dear Sir, This report refers to a patient with autosomal dominant polycystic kidney disease (ADPKD) and an intracystic hemorrhage while receiving continuous ambulatory peritoneal dialysis (CAPD). Because of the cystic swelling, it was difficult to continue CAPD. Ethanol was injected into the cyst which, as a result, was found to have contracted. There was no evidence of a recurrent hemorrhage, and CAPD treatment was, therefore, sustained. The patient, a female aged 55 years, was placed on CAPD therapy in October 1994 to treat her end-stage renal failure caused by ADPKD. On May 23, 1996, the patient suffered a sudden attack of severe pain in the left flank region and had to be hospitalized.