Bilateral nephrectomy for massive pulmonary hemorrhage in Goodpasture's syndrome

A case of Goodpasture''s syndrome is described in which bilateral nephrectomy was undertaken because of massive pulmonary hemorrhage. Similar cases recorded in the literature are reviewed. Various hypotheses to explain the beneficial effects of renal ablation on lung purpura are considered. It is suggested that the pulmonary hemorrhage in Goodpasture''s syndrome is mediated in part by a non-antibody humoral factor with permeability-increasing properties that is released from the nephritic kidney.     

Towards a more rapid diagnosis of rapidly progressive glomerulonephritis.

An attempt was made to provide simple practical guidelines to alert general practitioners to the diagnosis of rapidly progressive glomerulonephritis and lead to early referral to hospital. The duration of illness before referral to this hospital and its effect on outcome in patients with crescentic nephritis were assessed retrospectively from the case notes of 24 patients referred over two years. Four patients had Goodpasture''s syndrome, 11 Wegener''s granulomatosis, seven microscopic polyarteritis, and two idiopathic progressive glomerulonephritis. The duration of symptoms before referral to the local hospital was similar in the four groups of patients and varied from one week to 28 months (mean 10 months). The duration of stay in the local hospital was two, nine, 11, and 180 days in the patients with Goodpasture''s syndrome and a mean of four days (range one to eight) in those with Wegener''s granulomatosis and 10 days (one to 18 days) in those with microscopic polyarteritis. In the local hospital the diagnosis was based on the results of renal biopsy and detection of antibodies to glomerular basement membrane in two patients with Goodpasture''s syndrome and on the results of renal biopsy in seven of the other patients aided by the detection of antibodies to the cytoplasm of neutrophils (ANCA) in 10. Three of the 24 patients died and four required maintenance haemodialysis. Patients who present to their general practitioners with persistent non-specific symptoms should have a urine dipstick test and then blood tests and emergency referral to hospital if necessary. Hospital physicians should be aware of the speed and accuracy with which current assays can confirm a diagnosis of rapidly progressive glomerulonephritis.     

De novo acute infection and reactivation of hepatitis B virus in established cirrhosis.

Five patients with cirrhosis proved by biopsy had clinical, biochemical, and serological evidence of an acute hepatitis B infection. In two the illness was fulminant and led to death. Only one patient completely recovered. Serological markers for the hepatitis B virus were absent before the onset of the acute illness in four patients, which suggested that a de novo infection had been acquired as a result of recent transfusions of blood or blood products. The fifth patient, who had Goodpasture''s syndrome, had antibody to the core of hepatitis B virus, indicating previous exposure to the virus; his acute hepatitis may have been related to immunosuppressive drug treatment, which may have reactivated a dormant virus infection. Thus an acute type B viral hepatitis due to either a de novo or a reactivated infection may be superimposed on cirrhosis.     

Recurrent Goodpasture's syndrome.

Goodpasture''s syndrome was diagnosed in a 17-year-old boy with glomerulonephritis and hemoptysis. He was successfully treated with cyclophosphamide, prednisone and courses of plasmapheresis. The syndrome recurred 3 1/2 years later and was again successfully treated.     

Recovery from Goodpasture's syndrome after immunosuppressive treatment and plasmapheresis.

A patient with Goodpasture''s syndrome has recovered after treatment with immunosuppressive drugs (cyclophosphamide and prednisolone) and removal of circulating antibodies by plasma exchange. This was performed on seven occasions and seems to have hastened the decline in circulating antibody levels. Undertaken early in the course of the disease plasmapheresis could prove a useful addition to its therapy.     

Goodpasture's Syndrome: Pulmonary Hemosiderosis with Glomerulonephritis

Three cases of Goodpasture''s syndrome (pulmonary hemosiderosis and glomerulonephritis) are described. Each presented with unexplained hemoptysis and subsequently developed glomerulonephritis which caused uremia. These cases include the youngest and the oldest individuals yet reported with the condition. Steroid therapy was administered to one patient but apparently did not influence the course of the disease. The variations in the clinical course and the pathology of the disease are discussed.     

Plasmapheresis in Clinical Medicine

Large-volume plasma exchange can now be rapidly and safely done using cell separator technology. Significant depletion of immunoglobulins and immune complexes can be achieved by repeated intensive plasmapheresis, but sustained depletion of these constituents requires concomitant immunosuppressive therapy. Plasmapheresis appears to work in some disorders by removing pathogenic antibodies, but other mechanisms of action have been postulated. It is the treatment of choice for thrombotic thrombocytopenic purpura and for the hyperviscosity syndrome due to macroglobulinemia. Apheresis can be useful in the treatment of many other disorders, most notably myasthenia gravis, glomerulonephritis associated with hemoptysis (Goodpasture''s syndrome), refractory systemic lupus erythematosus, cryoglobulinemia and immune cytopenic disorders.     

A CMA position. Acquired immunodeficiency syndrome.

The following general principles serve as guidelines for various bodies, health care professionals and the general public. Specific aspects of infection with human immunodeficiency virus (HIV) and acquired immunodeficiency syndrome (AIDS) that relate to physicians'' ethical responsibilities as well as society''s moral obligations are discussed. Such matters include the need for education, research and treatment resources; the patient''s right to investigation and treatment and to refusal of either; the need to obtain the patient''s informed consent; the right to privacy and confidentiality; the importance of infection control; and the right to financial compensation in the case of occupational exposure to HIV.     

Glomerulonephritis Associated with Antibody to Glomerular Basement Membrane

Glomerulonephritis associated with antibody to glomerular basement membrane, shown by linear staining of the glomerular basement membrane with fluoresceinated anti-IgG antisera, was found in only 10 out of 400 (2·5%) renal biopsy specimens studied by immunofluorescence. Seven of these cases had rapidly progressive glomerulonephritis, five with lung haemorrhage (Goodpasture''s syndrome) and two without, and three had less severe nephritis without lung haemorrhage. Circulating antibody to glomerular basement membrane, measured by a passive haemagglutination technique and by indirect immunofluorescence, was detected in the serum of all patients with rapidly progressive glomerulonephritis by both techniques but only by the passive haemagglutination method in two of the other three patients. Two patients died of their lung haemorrhage, one despite bilateral nephrectomy, and lung haemorrhage and circulating antibody to glomerular basement membrane persisted after bilateral nephrectomy in another patient.     

Current treatment of hepatitis C-associated rheumatic diseases

The hepatitis C virus (HCV) is both hepatotropic and lymphotropic, responsible for a great number of hepatic and extrahepatic immune-system disorders that comprise the so-called HCV syndrome. HCV-associated rheumatic diseases are characterized by frequent clinico-serological overlap; therefore, correct classification of individual patients is necessary before therapeutic decisions are made. This is particularly difficult to do, however, because of the coexistence of viral infection and complex autoimmune alterations. In this context, mixed cryoglobulinemia syndrome (MCs) represents the prototype of virus-related autoimmune-lymphoproliferative diseases. MCs can be treated at different levels by means of etiological treatment with antivirals (peg-interferon-alpha plus ribavirin) aimed at HCV eradication and/or pathogenetic/symptomatic treatments directed to both immune-system alterations and the vasculitic process (rituximab, cyclophosphamide, steroids, plasmapheresis, and so on). In clinical practice, the therapeutic strategy should be modulated according to severity/activity of the MCs and possibly tailored to each individual patient''s conditions. Cryoglobulinemic skin ulcers may represent a therapeutic challenge, which should be managed by means of both local and systemic treatments. HCV-associated arthritis should be differentiated from the simple comorbidity of HCV infection and classical rheumatoid arthritis. It may be treated with low doses of steroids and/or hydroxychloroquine; the use of biologics (rituximab) may be considered in more severe cases. Primary Sjögren''s syndrome is rarely associated with HCV infection, while sicca syndrome and myalgia are frequently detectable in hepatitis C patients, with or without cryoglobulinemic vasculitis. Other autoimmune rheumatic disorders (poly/dermatomyositis, polyarteritis nodosa, osteosclerosis, fibromyalgia, and so on) have been reported as potentially associated with HCV infection in patient populations from different countries, suggesting the role of genetic and/or environmental co-factors. The therapeutic approach to these disorders should be decided according to each individual patient''s evaluation, including hepatic, virological, and immunological findings.     

Five cases of cyclical Cushing's syndrome.

Reported cases of cyclical Cushing''s syndrome are rare. Of 14 successive patients with Cushing''s syndrome nine collected sequential urine samples for the estimation of cortisol:creatinine ratio. Five had cyclical Cushing''s syndrome while two had considerable variation in urinary cortisol excretion without a cyclical pattern being established. Two of the five patients with a cyclical syndrome had paradoxical responses to dexamethasone. In only one patient with a cyclical pattern did the cortisol:creatinine ratio fall after treatment with bromocriptine or cyproheptadine, or both. The high incidence of the cyclical form of Cushing''s syndrome has important clinical implications. A high index of suspicion of the syndrome is required in patients with symptoms or signs of Cushing''s syndrome but with normal cortisol values, in patients with fluctuating cortisol values, and in patients with anomalous responses to dexamethasone. Because of possible variations in steroidogenesis the results of drug studies in Cushing''s syndrome must be interpreted cautiously.     

Was Young's syndrome caused by exposure to mercury in childhood?

OBJECTIVE--To determine whether the incidence of chronic sinusitis, bronchitis, or bronchiectasis in men with obstructive azoospermia (Young''s syndrome) has fallen in men born after 1955 when calomel (mercurous chloride) was removed from teething powders and worm medication in the United Kingdom. DESIGN--A prospective study of aetiological factors in subfertile men with epididymal obstruction operated on between 1975 and 1993. SETTING--Central London. SUBJECTS--274 men with obstructive azoospermia undergoing epididymovasostomy; date of birth was recorded and illness in childhood, persistent nasal or respiratory symptoms, and previous urinary or genital infection were asked about. MAIN OUTCOME MEASURE--Site of epididymal block and association with possible aetiological factors, related to date of birth. RESULTS--146 men had hold up in the head of the epididymis (capital blocks): 119 (82%) had Young''s syndrome, and 11 gave a definite history of pink disease (mercury intoxication) in childhood. 128 had obstruction lower down towards the tail of the epididymis (caudal blocks): 64 (50%) had a history of genital or urinary infection, and only three had Young''s syndrome; none had had pink disease. The incidence of Young''s syndrome fell significantly from 114 (50%) of 227 men born up to 1955 to eight (17%) of 47 men born since then. CONCLUSIONS--The decline in incidence of Young''s syndrome in those born after 1955 is similar to that observed with pink disease, suggesting that both conditions may have had a similar aetiology--mercury intoxication.     

Marfan's Syndrome: The S. Family Re-visited

Marfan''s syndrome has been transmitted by a single pleiotropic autosomal gene through six generations of a Canadian family. At least 42 members of this family have been affected to date. The natural history of this inherited affliction in this family supports the hypothesis that Marfan''s syndrome is an abiotropic disorder of the connective tissues. Premature degeneration of the connective tissues is responsible for the serious ocular and cardiovascular complications of Marfan''s syndrome, for the shortened life span of affected individuals, and indirectly, for the economic distress of affected members of this family. Because no definitive treatment is available for Marfan''s syndrome, an educational approach to the restriction of child-bearing by affected individuals is proposed.     

Sj?rgren's syndrome treated with bromhexine: a randomised clinical study.

Existing treatment for Sjögren''s syndrome is unsatisfactory, and uncontrolled observations have suggested that bromhexine may be effective. Twenty-nine patients with Sjögren''s syndrome were therefore assigned to two randomised double-blind crossover trials with bromhexine and placebo, each comprising two two-week periods. In the first trial bromhexine 24 mg/day was given by mouth; in the second the dose was increased to 48 mg/day. After each treatment period the Schirmer test response, break-up time, Bijsterveld score, and the time taken for the patient to eat a dry biscuit were recorded, as well as the patient''s estimate of moistness in the eyes and mouth. In the second (higher-dose) trial values on the Schirmer test were significantly higher after bromhexine than after placebo and the break-up time was also increased after bromhexine, which suggested that the drug has a dose-dependent effect on lacrimal gland secretion in Sjögren''s syndrome. It had no effect on salivary gland function. Bromhexine is therefore valuable in the treatment of Sjögren''s syndrome.     

青少年GATA2缺陷继发骨髓增生异常综合征一例并文献复习

摘要 目的：提高对青少年GATA2缺陷继发骨髓增生异常综合征（MDS）疾病的认识。方法：回顾性分析我院收治的1例青少年GATA2缺陷继发MDS患者的诊疗过程,并结合相关文献进行复习总结。结果：患者男,17岁,2018年6月于我科诊断为MDS(MDS-EB-I,IPSS中危-1;WPSS高危;IPSS-R高危),继发骨髓纤维化。完善血液遗传全外显子基因检查提示患者GATA2基因突变。修正诊断为GATA2缺陷综合征、继发MDS( MDS-EB-I,IPSS中危-1;WPSS高危;IPSS-R高危) 、继发骨髓纤维化。完善患者姐姐血常规检查提示白细胞轻度减少,检查患者姐姐GATA2基因检测到GATA2基因错义突变。患者治疗期间反复出现多部位感染。进一步检查患者父母GATA2基因提示患者父亲GATA2基因存在错义突变。患者GATA2基因突变系父系遗传。结论：对于青少年MDS患者,应对其进行血液遗传学全外显子基因检查以确认其有无先天性疾病;对于存在先天性基因突变的患者,建议行家系筛查,并尽早行造血干细胞移植治疗。     

马尔尼菲蓝状菌病致溶骨性损害合并Sweet样皮疹1例

本文报道广西医科大学第一附属医院皮肤性病科收治的马尔尼菲蓝状菌病致溶骨性损害合并Sweet样皮疹1例。免疫力正常人群较少患马尔尼菲蓝状菌病。本例患者既往体健,起初合并融骨性损害,在两性霉素B、伊曲康唑治疗过程中逐渐出现Sweet样皮疹。患者经两性霉素B、伊曲康唑、激素等治疗后,病情逐渐好转。     

Bone Marrow-Derived Stem Cell (BMDSC) Transplantation Improves Fertility in a Murine Model of Asherman's Syndrome

Asherman''s Syndrome is characterized by intrauterine adhesions or fibrosis resulting as a consequence of damage to the basal layer of endometrium and is associated with infertility due to loss of normal endometrium. We have previously shown that bone marrow derived stem cells (BMDSCs) engraft the endometrium in mice and humans and Ischemia/reperfusion injury of uterus promoted BMDSCs migration to the endometrium; however, the role of BMDSCs in Asherman''s syndrome has not been characterized. Here a murine model of Asherman''s syndrome was created by traumatizing the uterus. We evaluate stem cell recruitment and pregnancy after BMDSCs transplantation in a model of Asherman''s syndrome. In the Asheman''s syndrome model, after BMDSC transplant, the Y chromosome bearing CD45-cells represented less than 0.1% of total endometrial cells. Twice the number of Y+CD45- cells was identified in the damaged uterus compared to the uninjured controls. There was no significant difference between the damaged and undamaged uterine horns in mice that received injury to a single horn. In the BMDSC transplant group, 9 of the 10 mice conceived, while only 3 of 10 in the non-transplanted group conceived (Chi-Square p = 0.0225); all mice in an uninjured control group conceived. The time to conception and mean litter size were not different between groups. Taken together, BMDSCs are recruited to endometrium in response to injury. Fertility improves after BMDSC transplant in Asherman''s Syndrome mice, demonstrating a functional role for these cells in uterine repair. BMDSC transplantation is a potential novel treatment for Asherman''s Syndrome and may also be useful to prevent Asherman''s syndrome after uterine injury.     

Prenatal and postnatal prevalence of Turner's syndrome: a registry study.

OBJECTIVE--To study prevalence of Turner''s syndrome in Denmark and to assess validity of prenatal diagnosis. DESIGN--Study of data on prenatal and postnatal Turner''s syndrome in Danish Cytogenetic Central Register. SUBJECTS--All registered Turner''s syndrome karyotypes (100 prenatal cases and 215 postnatal cases) during 1970-93. MAIN OUTCOME MEASURES--Prevalence of Turner''s syndrome karyotypes among prenatally tested fetuses and Turner''s syndrome among liveborn infants. RESULTS--Among infant girls, prevalence of Turner''s syndrome was 32/100,000. Among female fetuses tested by amniocentesis, prevalence of Turner''s syndrome karyotypes was 176/100,000 (relative risk of syndrome, 6.74 compared with prevalence among untested pregnancies). Among female fetuses tested by chorion villus sampling, prevalence of syndrome karyotypes was 392/100,000 (relative risk, 16.8). We excluded prenatal tests referred because of results of ultrasound scanning: among fetuses tested by amniocentesis revised relative risk was 5.68, while revised relative risk among fetuses tested by chorion villus sampling was 13.3. For 29 fetuses with prenatal diagnosis of possible Turner''s syndrome, pregnancy was allowed to continue and 24 children were live born. Thirteen of these children were karyotyped postnatally, and diagnosis of Turner''s syndrome had to be revised for eight, seven being normal girls and one boy. This gives tentative predictive value of amniocentesis in diagnosing Turner''s syndrome of between 21% and 67%. There was no significant relation between mother''s age and risk of Turner''s syndrome. CONCLUSIONS--Discrepancy between prenatal and postnatal prevalence of Turner''s syndrome challenges specificity of prenatal examination in diagnosing Turner''s syndrome.     

Relapses in Wegener's granulomatosis: the role of infection.

Out of 20 relapses that occurred in patients with Wegener''s granulomatosis, nine were provoked by bacterial or viral infection. Seven of these occurred during maintenance treatment in response to infection with common pathogens, and treatment of the infection alone was insufficient to produce remission. Circulating immune complexes were seen only in relapses due to infection and rarely in infections that occurred without relapse. A possible mechanism for infection-provoked relapses is that infection-derived complexes reactivate disease; alternatively, the acute-phase or cellular response to infection may enhance quiescent disease. Infection may exacerbate Wegener''s granulomatosis and other autoallergic diseases, but whether it does so by a common mechanism is not known and further study is required.     

扁桃体部分切除术最新进展

扁桃体切除术是耳鼻咽喉科最常见的手术之一,临床上治疗由于扁桃体肥大所致的儿童睡眠阻塞性呼吸暂停综合征,最常用的手术方式为双侧扁桃体切除术。扁桃体在儿童生长发育过程中具有重要的免疫功能,完全切除扁桃体对儿童的免疫功能具有一定的影响。且扁桃体全部切除术后常见一些并发症如出血及疼痛,这使得许多学者提出了扁桃体部分切除术。扁桃体部分切除术较扁桃体全部切除术相比,手术时间短、术后并发症少,在缓解儿童阻塞症状的同时,保留了一部分扁桃体,对于免疫功能也有一定的保留。本文将从扁桃体部分切除术治疗儿童睡眠呼吸暂停综合征的临床疗效以及术后出血、术后疼痛方面作一综述,为扁桃体部分切除术应用于临床提供合理依据。