ABSTRACT
Objective To investigate the clinical and pathological features of Fabry disease in Chinese patients. Methods This retrospective study included all in-patients Fabry disease patients at PUMC Hospital from 2004 to 2014.Results The 12 patients included 10 males and 2 females.The middle age at onset was 10.The most fre-quent symptoms in our group were pain(10/12), angiokeratoma(9/12), renal abnormalities (7/12), hearing loss ( 6/12 ) , hypohidrosis ( 5/12 ) , cardiac abnormalities ( 5/12 ) , cerebrovascular abnormalities ( 3/12 ) and ophthalmological abnormalities ( 3/12 ) .The severe clinical manifestations were more frequently found in males . Electron microscopy plays a very important role in pathological diagnosis of Fabry disease .7 patients were suspec-ted to have family history .5 patients were examined regularly in which 4 cases were stable , and 1 patient re-ceived hemodialysis after 3 years'follow-up.Conclusions Onset of Fabry disease is early, many organs could be involved and patients may have different clinical manifestations.There are great differences in clinical features be-tween male and female patients .
ABSTRACT
Objective To investigate the dynamic expressions and clinical significance of CD141, CD31 and CD95 on circulating endothelial cells (CEC) in febrile and polyuria phases of patients with hemorrhagic fever with renal syndrome (HFRS). Methods Expressions of CD141, CD31 and CD95 in the peripheral blood of patients with HFRS in febrile and polyuria phases were detected by flow cytometry. Comparisons among groups were done by one-factor analysis of variance. Results The percentages of CD141+ CD31+ cells in the peripheral blood cells from patients with HFRS in febrile and polyuria phases were 9.47% ±1.98 % and 8. 26% ±1.55 %, respectively, which were both higher than that (7.05%±1.45%) in healthy controls (F=8. 42; P=0. 000 and P=0. 029, respectively), and that in febrile phase was higher than that in polyuria phase (P = 0. 048). The mean fluorescent intensity (MFI) of CD95 on CEC of HFRS patients in febrile and polyuria phases were both significantly higher than that in healthy controls (F=19. 93; P=0. 000 and P=0. 000 respectively), and that in febrile phase was higher than that in polyuria phase (P=0. 049). In the febrile phase of HFRS,the MFI of CD95+ on CEC in patients with all clinical types were all higher than that in healthy controls (F= 17. 36; all P=0. 000), and that in severe (critical) type was the highest and higher than those in mild type and moderate type (P=0. 002 and P=0. 009, respectively). Conclusion The proportion of CEC and expression of CD95 on CEC are possibly related with the phase and severity of HFRS.