Hereditary Serum Cholinesterase Deficiency Associated with Severe Lipid Deposition in the Kidney.

Abstract

A 47-year-old womanwho was homozygousfor a silent cholinesterase gene (hereditary serum cholinesterase deficiency) presented with nephrotic syndrome and hyperlipidemia. Renal biopsy performed in 1986 demonstrated mesangial proliferative glomerulonephritis. Four years later, a second biopsy revealed progression with mesangial interpositions and severe lipid deposition in the glomeruli, tubules and interstitium. This is the first case of hereditary serum cholinesterase deficiency accompanied by renal disease. Serum cholinesterase deficiency may be related to hyperlipidemia and abnormal lipid deposition in the kidney, which promotes the progression of renal disease. (Internal Medicine 32: 145-151 1993)

A Family with Hereditary Serum Cholinesterase Deficiency.

“…Patients with SChEdeficiency have no symptoms in daily life except for prolonged postoperative apnea due to succinylcholine (4)(5)(6). Several cases that were found incidentally by blood chemistry examination have been reported (7)(8)(9). SChEdeficiency is caused by the genetic variation of the Ej locus of chromosome3.…”