| objective:diffuse body skin tumor vascular Angle(Anderson-Fabry diseases,FD)is a rare x-linked recessive hereditary Disease,involving the skin,nerve and visceral organs,this study was to investigate the clinical features and prognosis of FD,improve the level of diagnosis and treatment of the Disease,reduce misdiagnosis and misdiagn osis,slow Disease progression.Methods:to "diffuse" and "skin tumor vascular Angle" or "Angle of skin tumor vesse Is"as keywords,refer to Pubmed,matt from 1995 to 2015 strong,China hownet,a database of ten thousand cases were collected from 70 cases,eliminate information incomplete and repeated reported cases in 5 cases,undergraduate course room were 1 case of FD,a total of 66 cases,the use of Excel software into the general information of 66 patients,clinical features,diagnosis,treatment and prognosis,such as informati on,statistical analysis,and application of statistical software SPSS21.0 by chi-square measurement data or independent samples t test,compared with corresponding Pval ues,P<0.05 said statistical difference.Results:Report 1 case of FD,male,42,a large area of the body needlepoint to corn grain big dark purple spots papule 20 years.Her lesions pathologic:leather shallow blood vessel growth,part of the capillary hemangioma sample expansion.Combining with the characteristics of patients with rashes and pathology;Nervous system involv ement,paroxysmal burning pain and numbness of limbs,pain when heated or movem ent is aggravating,encounter cold relief);Four years of reflux esophagitis,gastritis;Hypertrophic cardiomyopathy 3 years;Proteinuria and apparent papillitis;Diagnosis:FD with nerve,heart,kidney,gastrointestinal tract,eye and other organ involveme nt.Temporary protect stomach,antihypertensive,reduce heart load and other symp tomatic treatment.The clinical characteristics of this group of data of FD is as follows:(1):In 66 patients,male 52 cases,14 cases female,male:female = then;The age distribution of 5?59 years old,average age(30.27 + 15.51);First onset age was born to 59 years old,mean age(18.39 +/-15.29 years);Identify mean age(30.05 +/-15.28 years).This group of data,both at home and abroad in FD patients reported rate statistically differences in gender(chi-square = 4.017,P = 4.017<0.05),the domestic men reported more.(2):Suspicious family history of 31 cases of FD patients,7 cases with first-degree relatives of FD patients and relatives secondary infection in 5 cases;A,level 2 relati ves all 8 cases,more than is unknown.(3):the affected organs:66 cases of patients,skin involvement in 41 cases(62.12%),nervous system involvement of 46 cases(69.70%),renal involvement 43 cases(65.15%),cardiac involvement 31 cases(49.21%)5 the affected eye 15 cases(22.73%),gastrointestinal tract involvement in 7 cases(10.61%),more than is unknown.(4):the first clinic department:dermatologist 21 cases,8 cases of kidney internal medicine,neurology,4 cases of cardiovascular internal medicine and pediatrics,3 pati ents general in 1 case,more than is unknown.(5):the attacks involving organs:66 cases of patients,the hair at the skin FD pati ents at the beginning of the 20 cases(30.30%),12 cases(18.18%),nervous system 9 cases(13.64%),heart kidney 6 cases(9.09%),2 cases of gastrointestinal tract(3.03%),more than is unknown.(6):the rash distribution area:66 cases of patients,record the rash incipient parts were 15 cases(22.73%),of which only affects incipient a site were 12 cases(80%),respectively,4 cases of abdominal and hip 3 cases,2 cases,waist,back,back in 1 case;The attacks involving multiple parts in 3 patients(20%),is the whole body in 1 case respectively,lower abdominal perineal in 2 cases.Rash involving parts:41 pat ients with skin involvement,involving 15 cases(36.59%)of lower limbs,trunk,and upper limbs all 14 cases(34.15%),hip and genital all 9 cases(22.00%),8 cases(1 9.51%),facial in 5 cases(12.20%).(7):66 cases of patients,alpha-benzene lactose glucoside enzyme activity dete ction A 33 cases(50%),including enzyme activity to reduce the 31 cases,accounting for 93.94%;Genetic testing 21 cases(31.82%);Skin biopsies in 24 cases(36.36%),"e pidermal hyperkeratosis,dermal shallow blood vessel growth,expansion of papilloma samples" on the part of the capillary for its characteristic;Kidney biopsy 21 cases(31.82%),"the little body,myelin sheath material or kidney cell bubble" for its characteris tic;Heart biopsy in 2 cases,"heart cytoplasmic bubble" for its characteristics.(8):in this group of data,the skin and heart(P<0.05)involvement in patients with FD at home and abroad have stat istical difference,domestic FD patients skin are more likely to be affected,overseas F D patients heart are more likely to be affected;The nervous system,kidneys,eyes invo lvement in patients with FD at home and abroad were no statistical difference(P>0.0 5).Kidneys,heart,eye involved no statistical difference in gender(P>0.05),while the men FD patients with nervous system(P<0.05),skin are more likely to be affected(P<0.05).(9):in this group of data,family history and system suffers no statistical diffe rence(P>0.05).System involved with illness also no statistical difference(P>0.05).(10):66 cases of patients,the first clinical diagnosis rate was 16.67%,the misdia gnosis 43.94%,not 39.99%.Misdiagnosis time 2?39 years,China's average misdia gnosis time(10.57-9.59)years,overseas(17.89 + 17.14)years;This group of data,both at home and abroad there is no statistical difference of misdiagnosis in patients with FD time(t =0.361,P = 0.361>0.05).(11):enzyme replacement(enzyme replacement therapy,ERT)treatment of 12 cases,4 cases were effective,poor curative effect in 2 cases;Other treatment of 26 cases,7 cases effectively,poor curative effect in 5 cases;Give up treatment in 2 cases,more than is unknown.conclusions:1.This group of data for the first time to see a doctor diagnosed only 11 cases(16.67%);Its reason except the skin nerve system has a characteristic,other systems involved are lack of specificity;Clinicians are not familiar with the feature of the disease;2.The alpha benzene lactose glucoside enzyme activity and gene detects A plays an important value in the diagnosis;But the active measure of high and low and cannot serve as organ involvement;3.ERT FD curative effect depends on the severity of the affected organs;4.The gene diagnosis of FD patients,even if has not any organ involvement,early lines of ERT therapy is necessary;5.Critical organs such as kidney,heart involvement is the main cause of death. |
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