Familiality of monocyte esterase deficiency in patients on continuous ambulatory peritoneal dialysis

Abstract

The purpose of this study was to determine whether or not peripheral blood monocyte esterase deficiency occurring in patients on CAPD was a familial characteristic. The peripheral blood monocyte esterase status of 74 patients on CAPD was determined by a naphthyl acetate esterase staining of cytospin preparations of their mononuclear cells following separation over ficoll. The peripheral blood of first degree relatives and spouses of monocyte esterase deficiency patients was similarly investigated for the deficiency. Three patients bad monocyte esterase deficiency and familiality of the defect was demonstrated in two of their families. The third family was incompletely investigated because of lack of consent. The monocyte esterase deficiency demonstrated in this cohort of patients did not result from their renal failure but was a familial characteristic.

Quantitative deficiency of monocyte‐specific esterase (MSE) mRNA in monocyte esterase deficiency (MED)

“…An increased prevalence of MED (up to 10 times greater than that found in blood donors) has been reported in lymphoproliferative and gastrointestinal malignant neoplastic diseases, as well as in patients with autoimmune disease ( Markey et al , 1990,1993 ). MED is a familial trait and has been demonstrated in 46% of members in affected families ( Markey et al , 1986,1987,1990 ; Bell et al , 1992 ; Hull et al , 1998 ). The patterns of inheritance suggest that the trait is predominantly an autosomal dominant characteristic ( Fig 2).…”

“…Patients and samples Blood samples were obtained from seven monocyte esterase‐positive subjects, 11 MED members of six previously described families ( Markey et al family A−1986, B−1987, C and D−1990; Hull et al E and F−1998) ( Fig 2) and one MED subject with a history of carcinoma of the colon whose family has not been investigated. Mononuclear cells were separated over Ficoll‐Paque (Amersham Pharmacia Biotec AB) and the percentage of monocytes determined by differential white cell counting on modified Wright's stained cytocentrifuge preparations of the mononuclear cells.…”

Why Discard the Peritoneal Macrophages of Patients on Capd?

“…Cells were harvested from four patients over a short period of time and cryopreserved over liquid nitrogen. The causes of their renal failure were hypertension ( n = 2; patients A, D) glomerulonephritis (B) and sarcoidosis (C); one patient had familial monocyte esterase deficiency (D), his peritoneal macrophages were similarly esterase deficient (Hall et al , 1998). On the day of examination all samples from a patient were thawed and pooled.…”