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Summary. Pelger-Huët anomaly is an inherited abnormality of neutrophils, characterized by reduced nuclear segementation and an apparently looser chromatin structure. Following linkage studies in two families, the lamin B-receptor (LBR) was sequenced and mutations found: CCGfiCTG causing prolinefileucine in codon 119 of exon 3, and IVS11-9 AfiG, disrupting the splice acceptor site. The LBR gene (LBR) was also sequenced from a single English man with Pelger-Huët anomaly and a heterozygous CfiG mutation was found in codon 569 of exon 14, predicted to cause a prolinefiarginine. Our results confirm recently published findings that LBR mutations cause Pelger-Huët.

Our data confirm the receptorial defect of glycoprotein GPIb (the receptor for vWF) on the surface of uremic platelets: a negative correlation between serum creatinine and the expression of glycoprotein GPIb was found. The defect was not corrected by hemodialysis and/or peritoneal dialysis. Hemodialysis and peritoneal dialysis have a different impact on the expression of GPIIb/IIIa glycoprotein (the receptor for vWF): peritoneal dialysis seems to have a more favourable effect by restoring normal values of the expression of this membrane integrine. Theoretically the data could be correlated to the better biocompatibility of the peritoneal dialysis and to more favorable clinical behaviour in terms of accelerated atherosclerosis and athero-thrombotic complications in the uremic patients with end stage renal disease. Finally the abnormalities of platelet surface receptors may play a main role in the hemostatic alterations of uremic patients.

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Platelet surface receptors for von Willebrand factor and for fibrinogen (glycoproteins GPIb and GPIIb/IIIa) were studied with monoclonal antibodies CD42 and CD41 and cytofluorometry in 31 healthy subjects, 10 hemodialysis patients with no A-V fistula obstruction (patent original fistula), 10 hemodialysis patients with frequent A-V fistula obstruction (more than twice), 12 patients with mild chronic renal failure (creatinine 1.75 +/- 0.40 mg/100 ml), 11 patients with advanced chronic renal failure (creatinine 5.62 +/- 1.22 mg/100 ml), and 10 patients with end-stage renal disease (ESRD) treated with peritoneal dialysis. There was a significant increase of platelet surface glycoproteins GPIb and GPIIb/IIIa in the population of hemodialysis patients with frequent A-V fistula obstruction. The expression of these platelet receptors might be related to the prothrombotic tendency of a group of patients with ESRD, who suffer more occlusive and thrombotic events of the A-V fistula. This group of patients may also have a higher frequency of systemic thrombotic and atherosclerotic complications.